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1. Nishijo K, Chen QR, Zhang L, McCleish AT, Rodriguez A, Cho MJ, Prajapati SI, Gelfond JA, Chisholm GB, Michalek JE, Aronow BJ, Barr FG, Randall RL, Ladanyi M, Qualman SJ, Rubin BP, LeGallo RD, Wang C, Khan J, Keller C: Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma. Cancer Res; 2009 Apr 1;69(7):2902-11
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  • [Title] Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma.
  • The highly aggressive muscle cancer alveolar rhabdomyosarcoma (ARMS) is one of the most common soft tissue sarcoma of childhood, yet the outcome for the unresectable and metastatic disease is dismal and unchanged for nearly three decades.
  • To better understand the pathogenesis of this disease and to facilitate novel preclinical approaches, we previously developed a conditional mouse model of ARMS by faithfully recapitulating the genetic mutations observed in the human disease, i.e., activation of Pax3:Fkhr fusion gene with either p53 or Cdkn2a inactivation.
  • In this report, we show that this model recapitulates the immunohistochemical profile and the rapid progression of the human disease.
  • At a whole-genome level, a cross-species gene set enrichment analysis and metagene projection study showed that our mouse model is most similar to human ARMS when compared with other pediatric cancers.
  • We have defined an expression profile conserved between mouse and human ARMS, as well as a Pax3:Fkhr signature, including the target gene, SKP2.

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  • (PMID = 19339268.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA074907-06; United States / NCI NIH HHS / CA / CA090438-06; United States / NCI NIH HHS / CA / CA064202-07; United States / NCI NIH HHS / CA / CA064202-13; United States / NCI NIH HHS / CA / R01 CA064202-08S1; United States / NCI NIH HHS / CA / P30CA54174; United States / NCI NIH HHS / CA / R01 CA064202-11; United States / NCI NIH HHS / CA / CA064202-08S1; United States / NCI NIH HHS / CA / R01 CA074907-09; United States / NCI NIH HHS / CA / K08 CA090438; United States / NCI NIH HHS / CA / CA074907-11; United States / NCI NIH HHS / CA / CA64202; United States / NCI NIH HHS / CA / R01 CA064202-06; United States / NCI NIH HHS / CA / R01 CA074907; United States / NCI NIH HHS / CA / CA064202-08; United States / NCI NIH HHS / CA / CA074907-07; United States / NCI NIH HHS / CA / R01 CA064202-14; United States / NCI NIH HHS / CA / R01 CA064202-13; United States / NCI NIH HHS / CA / R01 CA064202-07; United States / NCI NIH HHS / CA / R29 CA074907; United States / NCI NIH HHS / CA / CA074907-08; United States / NCI NIH HHS / CA / R01 CA064202-09; United States / NCI NIH HHS / CA / R01 CA064202; United States / NCI NIH HHS / CA / CA074907; United States / NCI NIH HHS / CA / CA074907-10A1; United States / NCI NIH HHS / CA / CA064202-11; United States / NCI NIH HHS / CA / CA074907-09; United States / NCI NIH HHS / CA / CA074907-06; United States / NCI NIH HHS / CA / R01 CA064202-08; United States / NCI NIH HHS / CA / R01 CA074907-11; United States / NCI NIH HHS / CA / CA064202-14; United States / NCI NIH HHS / CA / CA064202-10A1; United States / NCI NIH HHS / CA / R01 CA074907-07; United States / NCI NIH HHS / CA / P30 CA054174; United States / NCI NIH HHS / CA / CA064202-12; United States / NCI NIH HHS / CA / R01 CA074907-08; United States / NCI NIH HHS / CA / CA064202-06; United States / NCI NIH HHS / CA / R01 CA064202-12; United States / NCI NIH HHS / CA / K08 CA090438-06; United States / NCI NIH HHS / CA / R01 CA064202-10A1; United States / NCI NIH HHS / CA / CA064202-09; United States / NCI NIH HHS / CA / R01 CA074907-10A1
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cdkn2a protein, mouse; 0 / Cyclin-Dependent Kinase Inhibitor p16; 0 / Forkhead Transcription Factors; 0 / Foxo1 protein, mouse; 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human; 0 / Paired Box Transcription Factors; 0 / Tumor Suppressor Protein p53; 138016-91-8 / Pax3 protein, mouse
  • [Other-IDs] NLM/ NIHMS96027; NLM/ PMC2789740
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2. De Pittà C, Tombolan L, Albiero G, Sartori F, Romualdi C, Jurman G, Carli M, Furlanello C, Lanfranchi G, Rosolen A: Gene expression profiling identifies potential relevant genes in alveolar rhabdomyosarcoma pathogenesis and discriminates PAX3-FKHR positive and negative tumors. Int J Cancer; 2006 Jun 1;118(11):2772-81
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  • [Title] Gene expression profiling identifies potential relevant genes in alveolar rhabdomyosarcoma pathogenesis and discriminates PAX3-FKHR positive and negative tumors.
  • We analyzed the expression signatures of 14 tumor biopsies from children affected by alveolar rhabdomyosarcoma (ARMS) to identify genes correlating to biological features of this tumor.
  • The comparison of transcription profiles of tumor samples with fetal skeletal muscle identified 171 differentially expressed genes common to all ARMS patients.
  • The muscle-specific microarray platform was able to distinguish PAX3-FKHR positive and negative ARMS through the expression pattern of a limited number of genes (RAC1, CFL1, CCND1, IGFBP2) that might be biologically relevant for the different clinical behavior and aggressiveness of the 2 ARMS subtypes.
  • [MeSH-major] Forkhead Transcription Factors / genetics. Gene Expression Profiling. Paired Box Transcription Factors / genetics. Rhabdomyosarcoma, Alveolar / genetics. Rhabdomyosarcoma, Alveolar / physiopathology

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  • (PMID = 16381018.001).
  • [ISSN] 0020-7136
  • [Journal-full-title] International journal of cancer
  • [ISO-abbreviation] Int. J. Cancer
  • [Language] eng
  • [Grant] Italy / Telethon / / GSP04289
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors
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3. Canner JA, Sobo M, Ball S, Hutzen B, DeAngelis S, Willis W, Studebaker AW, Ding K, Wang S, Yang D, Lin J: MI-63: a novel small-molecule inhibitor targets MDM2 and induces apoptosis in embryonal and alveolar rhabdomyosarcoma cells with wild-type p53. Br J Cancer; 2009 Sep 1;101(5):774-81
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  • [Title] MI-63: a novel small-molecule inhibitor targets MDM2 and induces apoptosis in embryonal and alveolar rhabdomyosarcoma cells with wild-type p53.
  • MI-63 is a novel non-peptide small molecule that has shown strong binding affinity (K(i)=3 nM) for MDM2; however, its effects on paediatric cancer cells and the specific mechanism of tumour suppressor reactivation have not been evaluated.
  • METHODS: Rhabdomyosarcoma (RMS), the most common childhood soft tissue sarcoma, expresses either wild-type or mutant p53 protein.
  • We examined the inhibitory effects of MI-63 in embryonal RMS (ERMS) and alveolar RMS (ARMS) cell lines expressing wild-type or mutated p53.
  • RESULTS: Treatment with MI-63 reduced cell viability by 13.4% and by <1%, respectively, at 72 h in both RH36 and RH18 cell lines expressing wild-type p53.
  • In contrast, RH30 and RD2 cells expressing p53 mutants are resistant to MI-63 treatment.
  • An increased expression of p53, p21(WAF1), and Bax protein was observed after treatment with MI-63 in RMS cells with wild-type p53, and apoptosis was confirmed by cleaved PARP and caspase-3 expression.
  • MI-63 was compared with Nutlin-3, a known MDM2 inhibitor, and was found to be more potent in the inhibition of cell proliferation/viability.
  • Further, synergy was observed when MI-63 was used in combination with doxorubicin.
  • CONCLUSION: These results indicate that MI-63 is a potent therapeutic agent for RMS cells expressing wild-type p53 protein.
  • [MeSH-major] Antineoplastic Agents / pharmacology. Apoptosis / drug effects. Indoles / pharmacology. Proto-Oncogene Proteins c-mdm2 / antagonists & inhibitors. Rhabdomyosarcoma, Alveolar / pathology. Rhabdomyosarcoma, Embryonal / pathology. Spiro Compounds / pharmacology. Tumor Suppressor Protein p53 / metabolism

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  • (PMID = 19707204.001).
  • [ISSN] 1532-1827
  • [Journal-full-title] British journal of cancer
  • [ISO-abbreviation] Br. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Imidazoles; 0 / Indoles; 0 / MI-63 compound; 0 / Piperazines; 0 / Spiro Compounds; 0 / Tumor Suppressor Protein p53; 0 / nutlin 3; 80168379AG / Doxorubicin; EC 3.4.22.- / Caspase 3; EC 6.3.2.19 / MDM2 protein, human; EC 6.3.2.19 / Proto-Oncogene Proteins c-mdm2
  • [Other-IDs] NLM/ PMC2736841
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4. Parham DM, Qualman SJ, Teot L, Barr FG, Morotti R, Sorensen PH, Triche TJ, Meyer WH, Soft Tissue Sarcoma Committee of the Children's Oncology Group: Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. Am J Surg Pathol; 2007 Jun;31(6):895-901
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  • [Title] Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.
  • At the molecular level, alveolar rhabdomyosarcomas (ARMS) are characterized by 3 mutually exclusive PAX/FKHR conditions: PAX3/FKHR fusion (present in 60% of cases), PAX7/FKHR fusion (present in 20%), and PAX/FKHR fusion-negativity (present in 20%).
  • The possibility of morphologic variation among these molecular subtypes has not been investigated.
  • We undertook a blinded retrospective study of 65 cases of ARMS (16 PAX/FKHR fusion-negative, 36 PAX3/FKHR-positive, and 13 PAX7/FKHR-positive by routine reverse transcription-polymerase chain reaction).
  • We evaluated cytohistologic parameters such as microcyst formation, solid foci, differentiation, giant cell formation, anaplasia, nuclear grade, mitosis/karyorrhexis index, rosette formation, geographic necrosis, presence and amount of rhabdomyoblastic differentiation, and the presence of foci resembling embryonal rhabdomyosarcoma.
  • Of these features, only totally solid alveolar architecture reached significance (P=0.00014), with 7 of 16 PAX/FKHR-negative cases lacking this feature, compared with 0 of 36 PAX3/FKHR cases and 2/13 PAX7/FKHR cases.
  • These preliminary results indicate that in general, only totally solid alveolar architecture in ARMS may predict the absence of a PAX/FKHR fusion.
  • Our results suggest that histologic assessment of ARMS has limited correlation with PAX/FKHR fusion status.
  • [MeSH-major] Oncogene Proteins, Fusion / genetics. Rhabdomyosarcoma, Alveolar / genetics. Rhabdomyosarcoma, Alveolar / pathology

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  • (PMID = 17527077.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA 98543; United States / NCI NIH HHS / CA / CA24507; United States / NCI NIH HHS / CA / CA72989; United States / NCI NIH HHS / CA / CA81659; United States / NCI NIH HHS / CA / CA89461; United States / NCI NIH HHS / CA / CA98413; United States / NCI NIH HHS / CA / CA98543
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / Oncogene Proteins, Fusion; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors
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5. Rodeberg DA, Nuss RA, Heppelmann CJ, Celis E: Lack of effective T-lymphocyte response to the PAX3/FKHR translocation area in alveolar rhabdomyosarcoma. Cancer Immunol Immunother; 2005 Jun;54(6):526-34
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  • [Title] Lack of effective T-lymphocyte response to the PAX3/FKHR translocation area in alveolar rhabdomyosarcoma.
  • PURPOSE: Alveolar rhabdomyosarcoma (ARMS) frequently contains the fusion transcription factor PAX3/FKHR.
  • Therefore, clinical studies have been initiated to utilize the PAX3/FKHR translocation point area as a peptide vaccine against ARMS.
  • Yet, this HTL peptide activity did not translate into recognition of PAX3/FKHR-containing ARMS tumor cells.
  • [MeSH-major] Cancer Vaccines / immunology. DNA-Binding Proteins / immunology. Recombinant Fusion Proteins / immunology. Rhabdomyosarcoma, Alveolar / immunology. T-Lymphocytes / immunology. Transcription Factors / immunology. Translocation, Genetic

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  • (PMID = 15838707.001).
  • [ISSN] 0340-7004
  • [Journal-full-title] Cancer immunology, immunotherapy : CII
  • [ISO-abbreviation] Cancer Immunol. Immunother.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA080782; United States / NCI NIH HHS / CA / R01 CA103921
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Cancer Vaccines; 0 / DNA-Binding Proteins; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / HLA-A3 Antigen; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors; 0 / Recombinant Fusion Proteins; 0 / Transcription Factors
  • [Other-IDs] NLM/ NIHMS14250; NLM/ PMC1994147
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6. Vankalakunti M, Das A, Rao NK: Postauricular congenital alveolar rhabdomyosarcoma- a case report of an unusual entity. Diagn Pathol; 2006;1:37

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Postauricular congenital alveolar rhabdomyosarcoma- a case report of an unusual entity.
  • BACKGROUND: Congenital alveolar rhabdomyosarcoma is an extremely uncommon and invariably fatal tumor with the current therapy.
  • CASE PRESENTATION: We report a case of congenital alveolar rhabdomyosarcoma in an 18-month-old male who presented with a progressively increasing mass lesion in the left post-auricular region since birth.
  • Upon resecting the mass that was 10-cm in largest dimension, the gross, microscopic, and ultrastructural findings were consistent with congenital alveolar rhabdomyosarcoma.
  • CONCLUSION: The suspicion of alveolar subtype on histological grounds and proper evaluation of this tumor by immunostain and ultrastuctural examination is necessary.
  • In the Medline literature search, there is no report of large congenital alveolar rhabdomyosarcoma in the post-auricle region.

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  • (PMID = 17044930.001).
  • [ISSN] 1746-1596
  • [Journal-full-title] Diagnostic pathology
  • [ISO-abbreviation] Diagn Pathol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1621081
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7. Naini S, Etheridge KT, Adam SJ, Qualman SJ, Bentley RC, Counter CM, Linardic CM: Defining the cooperative genetic changes that temporally drive alveolar rhabdomyosarcoma. Cancer Res; 2008 Dec 1;68(23):9583-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Defining the cooperative genetic changes that temporally drive alveolar rhabdomyosarcoma.
  • Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and adolescence.
  • Despite advances in therapy, patients with a histologic variant of RMS known as alveolar (aRMS) have a 5-year survival rate of <30%.
  • aRMS tissues exhibit a number of genetic changes, including loss-of-function of the p53 and Rb tumor suppressor pathways, amplification of MYCN, stabilization of telomeres, and most characteristically, reciprocal translocation of loci involving the PAX and FKHR genes, generating the PAX7-FKHR or PAX3-FKHR fusion proteins.
  • To better understand the genetic events required for aRMS formation, we then stepwise converted these cells to their transformed counterpart.
  • PAX3-FKHR, the catalytic unit of telomerase hTERT, and MycN, in cooperation with down-regulation of p16INK4A/p14ARF expression, were necessary and sufficient to convert normal human myoblasts into tumorigenic cells that gave rise to aRMS tumors.
  • These early steps, coupled with MycN amplification and telomere stabilization, then drive the cells to a fully tumorigenic state.

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  • (PMID = 19047133.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / HD043494-06; United States / NICHD NIH HHS / HD / 5K12-HD043494; United States / NCI NIH HHS / CA / CA094184-07; United States / NICHD NIH HHS / HD / K12 HD043494-05; United States / NCI NIH HHS / CA / R01-CA94184; United States / NCI NIH HHS / CA / R01 CA094184; United States / NICHD NIH HHS / HD / K12 HD043494; United States / NICHD NIH HHS / HD / K12 HD043494-06; United States / NCI NIH HHS / CA / R01 CA094184-07; United States / NICHD NIH HHS / HD / HD043494-05
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cyclin-Dependent Kinase Inhibitor p16; 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human
  • [Other-IDs] NLM/ NIHMS73714; NLM/ PMC2593800
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8. Cecchetto G, Carretto E, Bisogno G, Dall'Igna P, Ferrari A, Scarzello G, Donfrancesco A, Alaggio R, Indolfi P, Carli M: Complete second look operation and radiotherapy in locally advanced non-alveolar rhabdomyosarcoma in children: A report from the AIEOP soft tissue sarcoma committee. Pediatr Blood Cancer; 2008 Nov;51(5):593-7
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  • [Title] Complete second look operation and radiotherapy in locally advanced non-alveolar rhabdomyosarcoma in children: A report from the AIEOP soft tissue sarcoma committee.
  • BACKGROUND: To evaluate the effect of radiotherapy (RT) in association with complete second look operation, histologically confirmed, on outcome of patients with IRS Gr.III non-alveolar RMS.
  • All achieved a complete resection of the residual tumor after neoadjuvant chemotherapy; 27 did not receive any other local treatment: pelvic 8, extremities 6, head-neck-non-parameningeal 5, orbit 1, genito-urinary-bladder-prostate 3, trunk 2, abdomen 1, vagina 1; 12 were given RT (32-45 Gy), 5 before and 7 after the operation: genito-urinary-bladder-prostate 3, pelvic 3, abdominal 1, extremities 1, head-neck-parameningeal 1, head-neck-non-parameningeal 1, vagina 1, orbit 1.
  • With RT: 10/12 patients are in first complete remission; 2/12 had a metastatic relapse (1 also local relapse), and both of them died of disease.
  • Without RT: 16/27 maintained the first complete remission, however 1/16 died due to a second tumor; 8 suffered from local relapse (4 pelvic, 1 orbit, 1 vagina, 1 head-neck-non-parameningeal, 1 abdomen) and 3 of them died, 3 showed a metastatic recurrence (2 extremities, 1 pelvic) and 1 died.
  • CONCLUSIONS: Local relapses were more frequent for patients without RT, especially in pelvic sites.
  • The two relapses after RT occurred in huge bladder-prostate RMS.
  • Although the limited number of patients does not allow statistically significant conclusions, our experience suggests that RT may have a positive influence on local control for completely resected non-alveolar RMS.
  • [MeSH-major] Rhabdomyosarcoma / radiotherapy. Rhabdomyosarcoma / surgery. Second-Look Surgery
  • [MeSH-minor] Adolescent. Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Child. Child, Preschool. Clinical Trials as Topic. Combined Modality Therapy. Female. Humans. Infant. Kaplan-Meier Estimate. Male. Neoplasm Recurrence, Local / pathology. Neoplasm Recurrence, Local / therapy. Radiotherapy, Adjuvant. Sarcoma

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  • [Copyright] (c) 2008 Wiley-Liss, Inc.
  • (PMID = 18668515.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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9. Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M: Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell? Cancer Lett; 2009 Jul 8;279(2):126-36
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  • [Title] Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell?
  • Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of rhabdomyosarcomas.
  • Most ARMS tumors have t(2;. 13) or t(1;.
  • While a significant amount of work has been done characterizing PAX-FKHR fusion proteins in ARMS and elucidating their involvement in the sarcomagenic process, their relationship to normal skeletal muscle differentiation remains unestablished.
  • In this manuscript we will explore a potential role for mesenchymal stem cells as the cell of origin of ARMS, and the possibility that PAX-FKHR fusion genes may commit these cells to a myogenic lineage while inhibiting terminal differentiation, thus contributing to ARMS formation.
  • We will also review the structure and function of alternate transcripts of PAX3, PAX7, FKHR and the fusion genes PAX3-FKHR and PAX7-FKHR, and discuss the role of these genes and their downstream targets in development of ARMS.
  • Additionally, we will review transgenic mouse models and their ability to mimic the formation of ARMS.
  • [MeSH-major] Mesenchymal Stromal Cells / pathology. Rhabdomyosarcoma, Alveolar / metabolism. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Animals. Cell Differentiation / physiology. Cell Transformation, Neoplastic / genetics. Cell Transformation, Neoplastic / pathology. Child. Disease Models, Animal. Humans. Mice. Muscle Fibers, Skeletal / metabolism. Muscle Fibers, Skeletal / pathology. Mutation. Neoplastic Stem Cells / metabolism. Neoplastic Stem Cells / pathology. Oncogene Proteins, Fusion / genetics. Oncogene Proteins, Fusion / metabolism. Paired Box Transcription Factors / genetics. Paired Box Transcription Factors / metabolism. Translocation, Genetic

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  • (PMID = 19008039.001).
  • [ISSN] 1872-7980
  • [Journal-full-title] Cancer letters
  • [ISO-abbreviation] Cancer Lett.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / Paired Box Transcription Factors
  • [Number-of-references] 100
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10. Yaren A, Guclu A, Sen N, Erdem E, Demirkan F: Breast metastasis in a pregnant woman with alveolar rhabdomyosarcoma of the upper extremity. Eur J Obstet Gynecol Reprod Biol; 2008 Sep;140(1):131-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Breast metastasis in a pregnant woman with alveolar rhabdomyosarcoma of the upper extremity.
  • [MeSH-major] Breast Neoplasms / secondary. Hand / pathology. Pregnancy Complications, Neoplastic / pathology. Rhabdomyosarcoma, Alveolar / pathology

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  • (PMID = 17869405.001).
  • [ISSN] 0301-2115
  • [Journal-full-title] European journal of obstetrics, gynecology, and reproductive biology
  • [ISO-abbreviation] Eur. J. Obstet. Gynecol. Reprod. Biol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Ireland
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11. Corapçioğlu F, Mutlu H, Deveci M: Use of bisphosphonates for hypercalcemia in a child with alveolar rhabdomyosarcoma. Turk J Pediatr; 2008 May-Jun;50(3):305
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Use of bisphosphonates for hypercalcemia in a child with alveolar rhabdomyosarcoma.
  • [MeSH-major] Diphosphonates / therapeutic use. Hypercalcemia / drug therapy. Paraneoplastic Syndromes / drug therapy. Rhabdomyosarcoma, Alveolar / complications

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  • [CommentOn] Turk J Pediatr. 2006 Jul-Sep;48(3):248-52 [17172070.001]
  • (PMID = 18773683.001).
  • [ISSN] 0041-4301
  • [Journal-full-title] The Turkish journal of pediatrics
  • [ISO-abbreviation] Turk. J. Pediatr.
  • [Language] eng
  • [Publication-type] Case Reports; Comment; Letter
  • [Publication-country] Turkey
  • [Chemical-registry-number] 0 / Diphosphonates
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12. Indelicato DJ, Keole SR, Shahlaee AH, Morris CG, Gibbs CP, Scarborough MT, Islam S, Marcus RB: Ewing tumors of the chest wall: Local control and long-term outcomes. J Clin Oncol; 2009 May 20;27(15_suppl):e21501

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Pts characteristics: median age 41 (19-80 y), male/female 19/12; symptoms at diagnosis: dyspnoea (42%), chest and shoulder pain (39%), cough (35%), hemophtoae (13%), discomfort (10%).
  • 26 lung sarcomas presented as a singular mass in 23 cases and as a metastatic disease in 3.
  • The histology were: peripheral nerve tumour 7, leiomyosarcoma 4, MFH 2, fibrosarcoma 2, liposarcoma 1, angiosarcoma 2, undifferentiated sarcoma 1, solitary fibrous tumour 2, rhabdomyosarcoma 2, synovialsarcoma 2, pulmonary artery sarcoma 1, pleuropolmonary blastoma 1, malignant hemangiopericytoma 1, mixoid chondrosarcoma 1, ectopic osteosarcoma 1, aggressive fibromatosis 1.
  • Only 4 pts received neoadjuvant chemotherapy, 11 adjuvant CT, 5 exclusive CT + RT for inoperable disease.
  • Of these only 8 are alive (2 with disease).
  • Volume of disease, complete resection and grading are the dominant prognostic factors.

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  • (PMID = 27963390.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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13. Brenner MJ, Haughey BH, Lewis JS Jr: Pathology quiz case 2. Alveolar rhabdomyosarcoma. Arch Otolaryngol Head Neck Surg; 2008 Oct;134(10):1117, 1118-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pathology quiz case 2. Alveolar rhabdomyosarcoma.
  • [MeSH-major] Neoplasm Invasiveness / pathology. Paranasal Sinus Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Biopsy, Needle. Combined Modality Therapy. Female. Follow-Up Studies. Humans. Immunohistochemistry. Middle Aged. Neoplasm Staging

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  • (PMID = 18936365.001).
  • [ISSN] 1538-361X
  • [Journal-full-title] Archives of otolaryngology--head & neck surgery
  • [ISO-abbreviation] Arch. Otolaryngol. Head Neck Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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14. Balaji R, Ramachandran K, Somanathan T, Nair SG, Krishnakumar AS, Venugopal M: Breast metastases in an adolescent woman with alveolar rhabdomyosarcoma of the maxillary sinus. Breast J; 2007 Jul-Aug;13(4):426-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Breast metastases in an adolescent woman with alveolar rhabdomyosarcoma of the maxillary sinus.
  • [MeSH-major] Breast Neoplasms / secondary. Maxillary Sinus Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / secondary. Tomography, X-Ray Computed. Ultrasonography, Doppler, Color

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  • (PMID = 17593053.001).
  • [ISSN] 1075-122X
  • [Journal-full-title] The breast journal
  • [ISO-abbreviation] Breast J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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15. Naithani R, Kumar R, Mahapatra M, Agrawal N, Saxena R, Sharma S: Pelvic alveolar rhabdomyosarcoma with bone marrow involvement misdiagnosed as acute myeloid leukemia. Pediatr Hematol Oncol; 2007 Mar;24(2):153-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pelvic alveolar rhabdomyosarcoma with bone marrow involvement misdiagnosed as acute myeloid leukemia.
  • [MeSH-major] Bone Marrow / pathology. Leukemia, Myeloid / diagnosis. Pelvic Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis
  • [MeSH-minor] Acute Disease. Adolescent. Diagnosis, Differential. Humans. Male

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  • (PMID = 17454783.001).
  • [ISSN] 1521-0669
  • [Journal-full-title] Pediatric hematology and oncology
  • [ISO-abbreviation] Pediatr Hematol Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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16. Leroy X, Petit ML, Fayoux P, Aubert S, Escande F: Aberrant diffuse expression of synaptophysin in a sinonasal alveolar rhabdomyosarcoma. Pathology; 2007 Apr;39(2):275-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Aberrant diffuse expression of synaptophysin in a sinonasal alveolar rhabdomyosarcoma.
  • [MeSH-major] Maxillary Sinus Neoplasms / metabolism. Maxillary Sinus Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / metabolism. Synaptophysin / biosynthesis

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  • (PMID = 17454764.001).
  • [ISSN] 0031-3025
  • [Journal-full-title] Pathology
  • [ISO-abbreviation] Pathology
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors; 0 / Synaptophysin
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17. Zaidi TS, Mushtaq I, Sebire N: Alveolar rhabdomyosarcoma of the bladder in a child. Pediatr Surg Int; 2006 May;22(5):474-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma of the bladder in a child.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / surgery. Urinary Bladder Neoplasms / surgery

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  • (PMID = 16518598.001).
  • [ISSN] 0179-0358
  • [Journal-full-title] Pediatric surgery international
  • [ISO-abbreviation] Pediatr. Surg. Int.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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18. Blizniukov OP, Petrovichev NN, Perevoshchikov AG, Poliakov VG: [Diagnosis of micrometastases of alveolar rhabdomyosarcoma]. Arkh Patol; 2008 Mar-Apr;70(2):36-40
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Diagnosis of micrometastases of alveolar rhabdomyosarcoma].
  • Alveolar rhabgomyosarcoma is a highly malignant, small blue cell pediatric soft tissue tumor.
  • Identification of micrometastases in alveolar rhabdomyosarcoma is important because the poor prognosis associated with this subgroup necessitates a modified therapeutic regimen.
  • Since the obtained lymph node specimen can be very small; rhabdomyosarcoma cells are not easily detected using conventional histological methods.
  • To assess the value of myogenin staining in the diagnosis of micrometastases in alveolar rhabdomyosarcoma, the authors examined 36 lymph nodes from children bearing this tumor.
  • The PAX3/7-FKHR gene fusion that resulted from chromosomal translocation in alveolar rhabdomyosarcoma provided potential molecular diagnostic markers.
  • Reverse-transcriptase polymerase chain reaction (RT-PCR) was used to develop an assay capable of identifying RAX3/7-FKHR positive cells in the fresh lymph nodes.
  • Thirty-six lymph nodes were examined and of them 17 lymph nodes had PAX3/7-FKHR fusion transcripts of alveolar rhadomyosarcoma cells.
  • The study demonstrates that molecular RT-PCR detection of micrometastases is the most sensitive method for diagnosing alveolar rhabdomyosarcoma.
  • [MeSH-major] Biomarkers, Tumor / biosynthesis. Eye Proteins / biosynthesis. Forkhead Transcription Factors / biosynthesis. Homeodomain Proteins / biosynthesis. Oncogene Proteins, Fusion / biosynthesis. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / metabolism. Soft Tissue Neoplasms / diagnosis. Soft Tissue Neoplasms / metabolism. Transcription Factors / biosynthesis
  • [MeSH-minor] Child. Child, Preschool. Female. Humans. Lymph Nodes / metabolism. Lymph Nodes / pathology. Male. Neoplasm Metastasis. Prognosis. RNA, Neoplasm / biosynthesis. RNA, Neoplasm / genetics. Reverse Transcriptase Polymerase Chain Reaction / methods. Translocation, Genetic / genetics

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  • (PMID = 18540440.001).
  • [ISSN] 0004-1955
  • [Journal-full-title] Arkhiv patologii
  • [ISO-abbreviation] Arkh. Patol.
  • [Language] rus
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Russia (Federation)
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Eye Proteins; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / Homeodomain Proteins; 0 / Oncogene Proteins, Fusion; 0 / RAX protein, human; 0 / RNA, Neoplasm; 0 / Transcription Factors
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19. Legendre BW, Nelson BL: Alveolar rhabdomyosarcoma of the paranasal sinuses. Head Neck Pathol; 2008 Dec;2(4):302-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma of the paranasal sinuses.
  • [MeSH-major] Paranasal Sinus Neoplasms / diagnosis. Paranasal Sinuses / pathology. Rhabdomyosarcoma, Alveolar / diagnosis

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  • [Cites] Surg Clin North Am. 2008 Jun;88(3):483-520, v-vi [18514695.001]
  • [Cites] Eur J Cancer. 2004 Aug;40(12):1878-85 [15288290.001]
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  • (PMID = 20614299.001).
  • [ISSN] 1936-0568
  • [Journal-full-title] Head and neck pathology
  • [ISO-abbreviation] Head Neck Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2807579
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20. Ihara T, Okamura D, Takahashi N, Kohri M, Kayano H, Tamaru J, Niitsu N: Alveolar rhabdomyosarcoma mimicking nasal lymphoma at the initial presentation. J Clin Exp Hematop; 2008 Nov;48(2):61-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma mimicking nasal lymphoma at the initial presentation.
  • Rhabdomyosarcoma is exceedingly rare in adults.
  • The patient was diagnosed as having alveolar rhabdomyosarcoma.
  • We conclude that rhabdomyosarcoma should be included in the differential diagnoses of CD56(+) small round cell tumor, and immunohistochemical and cytogenetic studies should be performed.
  • [MeSH-major] Lymphoma / diagnosis. Nose Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis
  • [MeSH-minor] Antigens, CD56 / biosynthesis. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Middle Aged. Oncogene Proteins, Fusion / biosynthesis. Oncogene Proteins, Fusion / genetics

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  • (PMID = 19039198.001).
  • [ISSN] 1346-4280
  • [Journal-full-title] Journal of clinical and experimental hematopathology : JCEH
  • [ISO-abbreviation] J Clin Exp Hematop
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Antigens, CD56; 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human
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21. Kikuchi K, Tsuchiya K, Otabe O, Gotoh T, Tamura S, Katsumi Y, Yagyu S, Tsubai-Shimizu S, Miyachi M, Iehara T, Hosoi H: Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma. Biochem Biophys Res Commun; 2008 Jan 18;365(3):568-74
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  • [Title] Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma.
  • The malignancy of alveolar rhabdomyosarcoma (ARMS) has been linked to expression of the PAX3-FKHR chimeric gene.
  • To understand the effect of this gene, we used RNAi to knock down its expression (without affecting the expressions of either PAX3 or FKHR) in human ARMS cell lines.
  • Down-regulating PAX3-FKHR caused (a) tumor cells to accumulate in the G1 phase, inhibiting the rate of cellular proliferation, (b) a reduction in the levels of the MET, reducing cell motility stimulated by HGF, and (c) induction of the myogenic differentiation gene, myogenin, and muscle differentiation (morphologic change and the expression of muscle specific proteins, desmin, and myosin heavy chain).
  • These results suggest that PAX3-FKHR in ARMS cells promotes malignant phenotypes such as proliferation, motility, and to suppress differentiation.
  • [MeSH-major] Muscle Neoplasms / pathology. Oncogene Proteins, Fusion / physiology. Rhabdomyosarcoma, Alveolar / pathology

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  • (PMID = 18022385.001).
  • [ISSN] 1090-2104
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human; 0 / RNA, Small Interfering
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22. Tan GC, Shiran MS, Hayati AR, Sharifah NA, Nuru AS, Rohaizak M: Alveolar rhabdomyosarcoma of the left hand with bilateral breast metastases in an adolescent female. J Chin Med Assoc; 2008 Dec;71(12):639-42
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  • [Title] Alveolar rhabdomyosarcoma of the left hand with bilateral breast metastases in an adolescent female.
  • Rhabdomyosarcoma is a common extramammary malignancy in pediatric age groups, but it rarely metastasizes to the breast.
  • Breast rhabdomyosarcomas are commonly metastatic, with possible primary locations at the head and neck, trunk, extremities, retroperitoneum and perianal region.
  • We report a case of primary alveolar rhabdomyosarcoma of the upper extremities in a 17-year-old adolescent female who presented with bilateral lower limb weakness and bilateral breast lumps.
  • [MeSH-major] Breast Neoplasms / secondary. Hand / pathology. Rhabdomyosarcoma, Alveolar / pathology. Rhabdomyosarcoma, Alveolar / secondary

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  • (PMID = 19114329.001).
  • [ISSN] 1726-4901
  • [Journal-full-title] Journal of the Chinese Medical Association : JCMA
  • [ISO-abbreviation] J Chin Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] China (Republic : 1949- )
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23. Sullivan LM, Atkins KA, LeGallo RD: PAX immunoreactivity identifies alveolar rhabdomyosarcoma. Am J Surg Pathol; 2009 May;33(5):775-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PAX immunoreactivity identifies alveolar rhabdomyosarcoma.
  • Tumors selected for evaluation included embryonal rhabdomyosarcoma (55 cases), alveolar rhabdomyosarcoma (ARMS) (51 cases), neuroblastoma (22 cases), Wilms tumor (18 cases), Ewing Family of Tumors (11 cases), lymphoblastic lymphoma (8 cases), hepatoblastoma (6 cases), and granulocytic sarcoma (3 cases) as either cores in a tissue microarray or whole mount sections.
  • Of the rhabdomyosarcoma cases, 34 of 51 (67%) ARMS were immunoreactive whereas none of the 55 embryonal rhabdomyosarcoma cases stained.
  • Genetic information was available on 7 ARMS, 5 of which had characteristic translocations involving PAX genes, either t(2:13) or t(1;13).
  • PAX3 and PAX7 fusion genes characterize the majority of ARMS making crossreactivity with these proteins an attractive theory, and suggest that PAX5 immunoreactivity may be specific for translocation-positive ARMS.
  • Further study in a larger series of rhabdomyosarcomas is warranted to assess the sensitivity and specificity of PAX5 immunoreactivity for the ARMS variant.
  • [MeSH-major] B-Cell-Specific Activator Protein / analysis. Rhabdomyosarcoma, Alveolar / chemistry
  • [MeSH-minor] Adolescent. Bone Neoplasms / chemistry. Child. Child, Preschool. Gene Expression Regulation, Neoplastic. Hepatoblastoma / chemistry. Humans. Immunohistochemistry. Infant. Infant, Newborn. Kidney Neoplasms / chemistry. Liver Neoplasms / chemistry. Neuroblastoma / chemistry. Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism. Predictive Value of Tests. Retrospective Studies. Rhabdomyosarcoma, Embryonal / chemistry. Sarcoma, Ewing / chemistry. Sarcoma, Myeloid / metabolism. Tissue Array Analysis. Translocation, Genetic. Wilms Tumor / chemistry

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  • (PMID = 19145202.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / B-Cell-Specific Activator Protein; 0 / PAX5 protein, human
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24. Bois PR, Izeradjene K, Houghton PJ, Cleveland JL, Houghton JA, Grosveldz GC: FOXO1a acts as a selective tumor suppressor in alveolar rhabdomyosarcoma. J Cell Biol; 2007 May 7;177(3):563
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  • [Title] FOXO1a acts as a selective tumor suppressor in alveolar rhabdomyosarcoma.

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  • [RetractionOf] Bois PR, Izeradjene K, Houghton PJ, Cleveland JL, Houghton JA, Grosveld GC. J Cell Biol. 2005 Sep 12;170(6):903-12 [16157701.001]
  • (PMID = 17485494.001).
  • [ISSN] 0021-9525
  • [Journal-full-title] The Journal of cell biology
  • [ISO-abbreviation] J. Cell Biol.
  • [Language] eng
  • [Publication-type] Retraction of Publication
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2064814
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25. Chan WM, Liu DT, Pang CP, Lam DS, To KF, Choi PC, Choy KW, Wong CY, Chan DD: Pediatric malignancies. Case 1. Hypermethylation in orbital alveolar rhabdomyosarcoma. J Clin Oncol; 2005 Jul 20;23(21):4790-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pediatric malignancies. Case 1. Hypermethylation in orbital alveolar rhabdomyosarcoma.
  • [MeSH-major] Orbital Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 16034055.001).
  • [ISSN] 0732-183X
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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26. Bahrami A, Gown AM, Baird GS, Hicks MJ, Folpe AL: Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall. Mod Pathol; 2008 Jul;21(7):795-806
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  • [Title] Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall.
  • Alveolar rhabdomyosarcoma may be extremely difficult to distinguish from other primitive round cell neoplasms without ancillary immunohistochemistry and/or genetic study.
  • Particularly in adults and in the head and neck locations, the differential diagnosis of alveolar rhabdomyosarcoma includes small cell carcinoma and neuroepithelial tumors, such as esthesioneuroblastoma.
  • We have recently seen cases of genetically confirmed alveolar rhabdomyosarcoma, which were misdiagnosed owing to expression of cytokeratins and neuroendocrine markers.
  • We studied a large group of well-characterized alveolar rhabdomyosarcomas for expression of such markers.
  • Forty-four alveolar rhabdomyosarcomas (18 genetically confirmed) were retrieved from our archives and immunostained for wide-spectrum cytokeratin (OSCAR), low molecular weight cytokeratin (Cam5.2), synaptophysin, chromogranin A, and CD56 using commercially available antibodies.
  • The tumors occurred in 23 males and 21 females at a mean age of 18 years (range, <1-64 years), and involved many sites.
  • Aberrant expression of epithelial and neuroendocrine markers is relatively common in alveolar rhabdomyosarcoma, occurring in 30-40% of cases.
  • These findings have significant implications for the diagnosis of alveolar rhabdomyosarcoma, particularly in adults and in the head and neck locations.
  • Although expression of cytokeratin and/or synaptophysin alone does not necessarily indicate epithelial or neuroendocrine differentiation, coexpression of cytokeratin and neuroendocrine markers, and in particular the presence of chromogranin expression, suggest true epithelial and/or neuroendocrine differentiation in a subset of alveolar rhabdomyosarcomas.
  • These findings emphasize the need to employ a panel of markers, to include desmin, myogenin/MyoD1, and genetic study in the diagnosis of primitive round cell neoplasms in all age groups and in all locations.
  • [MeSH-major] Biomarkers, Tumor / metabolism. Neoplasm Proteins / metabolism. Rhabdomyosarcoma, Alveolar / metabolism
  • [MeSH-minor] Adolescent. Adult. Antigens, CD56 / metabolism. Child. Child, Preschool. Chromogranin A / metabolism. Diagnosis, Differential. Diagnostic Errors / prevention & control. Female. Humans. Infant. Keratins / metabolism. Male. Middle Aged. Retrospective Studies. Synaptophysin / metabolism

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  • (PMID = 18487991.001).
  • [ISSN] 1530-0285
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD56; 0 / Biomarkers, Tumor; 0 / Chromogranin A; 0 / Neoplasm Proteins; 0 / Synaptophysin; 68238-35-7 / Keratins
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27. Milanovic R, Vlajcic Z, Zic R, Stanec S, Rudman F, Stanec Z: Alveolar rhabdomyosarcoma of the hand in a 2 year-old child. J Hand Surg Eur Vol; 2007 Feb;32(1):109-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma of the hand in a 2 year-old child.
  • [MeSH-major] Hand / surgery. Rhabdomyosarcoma, Alveolar / surgery. Soft Tissue Neoplasms / surgery
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Chemotherapy, Adjuvant. Child. Child, Preschool. Combined Modality Therapy. Female. Follow-Up Studies. Humans. Neoplasm Staging

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  • (PMID = 17049698.001).
  • [ISSN] 1753-1934
  • [Journal-full-title] The Journal of hand surgery, European volume
  • [ISO-abbreviation] J Hand Surg Eur Vol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Scotland
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28. Thiryayi SA, Rana DN, Roulson J, Crosbie P, Woodhead M, Eyden BP, Hasleton PS: Diagnosis of alveolar rhabdomyosarcoma in effusion cytology: a diagnostic pitfall. Cytopathology; 2010 Aug;21(4):273-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis of alveolar rhabdomyosarcoma in effusion cytology: a diagnostic pitfall.
  • [MeSH-major] Cytological Techniques / methods. Diagnostic Errors. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 19843149.001).
  • [ISSN] 1365-2303
  • [Journal-full-title] Cytopathology : official journal of the British Society for Clinical Cytology
  • [ISO-abbreviation] Cytopathology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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29. Daramola AO, Banjo AA, Ajekigbe AT, Popoola AO: Metastatic alveolar rhabdomyosarcoma to the breast: a case report. Niger Postgrad Med J; 2008 Jun;15(2):137-40
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  • [Title] Metastatic alveolar rhabdomyosarcoma to the breast: a case report.
  • OBJECTIVE: To present the unusual occurrence of a Metastatic Alveolar Rhabdomyosarcoma to the right breast in a young woman, six years after the primary in the right thigh had been surgically excised and treated.
  • CONCLUSION: Metastatic Rhabdomyosarcoma to the breast is a rare condition and is almost exclusive to adolescent females.
  • Routine breast examinations should be mandatory for long term female survivors of primary Rhabdomyosarcomas.
  • [MeSH-major] Breast Neoplasms / secondary. Muscle Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / secondary
  • [MeSH-minor] Adult. Biopsy. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Mastectomy

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  • (PMID = 18575488.001).
  • [ISSN] 1117-1936
  • [Journal-full-title] The Nigerian postgraduate medical journal
  • [ISO-abbreviation] Niger Postgrad Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Nigeria
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30. Ragsdale BD, Lee JP, Mines J: Alveolar rhabdomyosarcoma on the external ear: a case report. J Cutan Pathol; 2009 Feb;36(2):267-9
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  • [Title] Alveolar rhabdomyosarcoma on the external ear: a case report.
  • Alveolar rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood.
  • [MeSH-major] Ear Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology. Skin Neoplasms / pathology

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  • (PMID = 19208077.001).
  • [ISSN] 1600-0560
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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31. Leventhal DD, Spiegel J, Keane W: Laryngeal alveolar rhabdomyosarcoma involving the true vocal fold in an adult: Case report. Ear Nose Throat J; 2010 Dec;89(12):E8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Laryngeal alveolar rhabdomyosarcoma involving the true vocal fold in an adult: Case report.
  • Rhabdomyosarcoma of the larynx is extremely rare in adults, as only 17 well-documented cases have been previously reported in the English-language literature.
  • Of these, only 2 cases (both male) involved the alveolar subtype of rhabdomyosarcoma, and neither involved the true vocal folds.
  • We report a case of alveolar rhabdomyosarcoma of the true vocal fold in 54-year-old woman.
  • Management of head and neck rhabdomyosarcoma has evolved from radical surgery to less morbid procedures supplemented with radiation and chemotherapy.
  • [MeSH-major] Laryngeal Neoplasms / pathology. Laryngeal Neoplasms / therapy. Rhabdomyosarcoma, Alveolar / pathology. Rhabdomyosarcoma, Alveolar / therapy. Vocal Cords / pathology
  • [MeSH-minor] Biopsy, Needle. Chemotherapy, Adjuvant. Combined Modality Therapy. Female. Follow-Up Studies. Hoarseness / diagnosis. Hoarseness / etiology. Humans. Immunohistochemistry. Laryngectomy / methods. Laryngoscopy / methods. Middle Aged. Neoplasm Invasiveness / pathology. Neoplasm Staging. Positron-Emission Tomography / methods. Radiotherapy, Adjuvant. Risk Assessment. Time Factors. Treatment Outcome

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  • (PMID = 21174270.001).
  • [ISSN] 1942-7522
  • [Journal-full-title] Ear, nose, & throat journal
  • [ISO-abbreviation] Ear Nose Throat J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
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32. Kuroiwa M, Sakamoto J, Shimada A, Suzuki N, Hirato J, Park MJ, Sotomatsu M, Hayashi Y: Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome. J Pediatr Surg; 2009 Mar;44(3):e31-5
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  • [Title] Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome.
  • We report a rare case of neonatal Beckwith-Wiedemann syndrome (BWS) associated with alveolar rhabdomyosarcoma (RMS).
  • Alveolar RMS was diagnosed on the basis of excisional biopsy.
  • The patient, who is now 3 years and 11 months of age, is alive 46 months after the initial diagnosis, albeit with disease.
  • Thus, neonatal alveolar RMS with BWS may result from an alternate molecular pathway.
  • [MeSH-major] Beckwith-Wiedemann Syndrome / complications. Rhabdomyosarcoma, Alveolar / complications. Rhabdomyosarcoma, Alveolar / diagnosis. Skin Neoplasms / complications

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  • (PMID = 19302842.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Phytogenic; 0 / KCNQ1OT1 protein, human; 0 / Potassium Channels, Voltage-Gated; 1CC1JFE158 / Dactinomycin; 5J49Q6B70F / Vincristine; 7673326042 / irinotecan; 8N3DW7272P / Cyclophosphamide; XT3Z54Z28A / Camptothecin; VAC protocol
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33. Williamson D, Lu YJ, Fang C, Pritchard-Jones K, Shipley J: Nascent pre-rRNA overexpression correlates with an adverse prognosis in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer; 2006 Sep;45(9):839-45
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nascent pre-rRNA overexpression correlates with an adverse prognosis in alveolar rhabdomyosarcoma.
  • Here, we observe that various tumor samples including rhabdomyosarcoma show very prominent staining on the short arms of the acrocentric chromosomes suggesting an increase in expression of ribosomal RNA synthesized from the repetitive rDNA of the nucleolar organizer regions located on these chromosomes.
  • Survival analysis showed a correlation with overexpression from this region and a poor prognosis in rhabdomyosarcoma.
  • This phenomenon was studied in an extended set of rhabdomyosarcoma tumor samples using quantitative real-time reverse transcriptase-PCR to quantify levels of pre-rRNA (precursor ribosomal RNA).
  • It was demonstrated first that the strong CESH signals did correspond to a marked increase in pre-rRNA expression and second that high pre-rRNA expression correlated with an adverse prognosis in alveolar subtype rhabdomyosarcoma.
  • We conclude that measuring expression of pre-rRNA by real-time PCR is a useful prognostic marker in alveolar rhabdomyosarcoma.
  • [MeSH-major] RNA Precursors / biosynthesis. RNA Precursors / genetics. RNA, Ribosomal / biosynthesis. RNA, Ribosomal / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 16770781.001).
  • [ISSN] 1045-2257
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA Precursors; 0 / RNA, Ribosomal
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34. Williamson D, Missiaglia E, de Reyniès A, Pierron G, Thuille B, Palenzuela G, Thway K, Orbach D, Laé M, Fréneaux P, Pritchard-Jones K, Oberlin O, Shipley J, Delattre O: Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol; 2010 May 1;28(13):2151-8
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  • [Title] Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
  • PURPOSE: To determine whether the clinical and molecular biologic characteristics of the alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS) subtypes have relevance independent of the presence or absence of the PAX/FOXO1 fusion gene.
  • PATIENTS AND METHODS: The fusion gene status of 210 histopathologically reviewed, clinically annotated rhabdomyosarcoma samples was determined by reverse transcriptase polymerase chain reaction.
  • Kaplan-Meier analysis was used to assess event-free survival and overall survival in fusion gene-negative ARMS (ARMSn; n = 39), fusion gene-positive ARMS (ARMSp; n = 94), and ERMS (n = 77).
  • CONCLUSION: The clinical behavior and molecular characteristics of alveolar cases without a fusion gene are indistinguishable from embryonal cases and significantly different from fusion-positive alveolar cases.
  • This implies that fusion gene status irrespective of histology is a critical factor in risk stratification of RMS.
  • [MeSH-major] Chromosomes, Human, Pair 8. Genetic Testing. Oncogene Proteins, Fusion / genetics. PAX7 Transcription Factor / genetics. Paired Box Transcription Factors / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Embryonal / diagnosis
  • [MeSH-minor] Child. Child, Preschool. Diagnosis, Differential. Disease-Free Survival. Female. France. Gene Expression Profiling. Gene Expression Regulation, Neoplastic. Great Britain. Humans. Kaplan-Meier Estimate. Male. Nuclear Receptor Coactivator 1 / genetics. Predictive Value of Tests. Proportional Hazards Models. Reverse Transcriptase Polymerase Chain Reaction. Risk Assessment. Risk Factors. Time Factors. Treatment Outcome


35. Yamaguchi K, Koga Y, Suminoe A, Saito Y, Matsuzaki A, Kanno S, Takimoto T, Suda M, Oda Y, Muto T, Takatsuki H, Hara T: [Alveolar rhabdomyosarcoma of unknown origin mimicking acute leukemia at the initial presentation]. Rinsho Ketsueki; 2007 Apr;48(4):315-20
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  • [Title] [Alveolar rhabdomyosarcoma of unknown origin mimicking acute leukemia at the initial presentation].
  • Reverse transcriptase polymerase chain reaction demonstrated PAX3/FKHR fusion transcripts, confirming the diagnosis of alveolar rhabdomyosarcoma.
  • The patient received an allogeneic bone marrow transplantation eight months after diagnosis, although he died of hepatic veno-occlusive disease on day 21.
  • Alveolar rhabdomyosarcoma often develops in older children and younger adults, and its bone marrow infiltration may mimic acute leukemia.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / diagnosis
  • [MeSH-minor] Acute Disease. Adolescent. Antigens, CD56 / analysis. Biomarkers, Tumor / analysis. Bone Marrow / pathology. Diagnosis, Differential. Disseminated Intravascular Coagulation / etiology. Fatal Outcome. Forkhead Transcription Factors / genetics. Humans. Leukemia. Male. Paired Box Transcription Factors / genetics. Reverse Transcriptase Polymerase Chain Reaction. Transcription, Genetic

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  • (PMID = 17515123.001).
  • [ISSN] 0485-1439
  • [Journal-full-title] [Rinshō ketsueki] The Japanese journal of clinical hematology
  • [ISO-abbreviation] Rinsho Ketsueki
  • [Language] jpn
  • [Publication-type] Case Reports; English Abstract; Journal Article; Review
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Antigens, CD56; 0 / Biomarkers, Tumor; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors
  • [Number-of-references] 28
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36. Zeng FY, Dong H, Cui J, Liu L, Chen T: Glycogen synthase kinase 3 regulates PAX3-FKHR-mediated cell proliferation in human alveolar rhabdomyosarcoma cells. Biochem Biophys Res Commun; 2010 Jan 1;391(1):1049-55
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  • [Title] Glycogen synthase kinase 3 regulates PAX3-FKHR-mediated cell proliferation in human alveolar rhabdomyosarcoma cells.
  • Patients with alveolar rhabdomyosarcoma (ARMS) have poorer response to conventional chemotherapy and lower survival rates than those with embryonal RMS (ERMS).
  • To identify compounds that preferentially block the growth of ARMS, we conducted a small-scale screen of 160 kinase inhibitors against the ARMS cell line Rh30 and ERMS cell line RD and identified inhibitors of glycogen synthase kinase 3 (GSK3), including TWS119 as ARMS-selective inhibitors.
  • These findings support a novel mechanism of PAX3-FKHR regulation by GSK3 and provide a novel strategy to develop GSK inhibitors as anti-ARMS therapies.

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  • [Copyright] Copyright 2009 Elsevier Inc. All rights reserved.
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  • (PMID = 19995556.001).
  • [ISSN] 1090-2104
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P30 CA021765; None / None / / P30 CA021765-31; United States / NCI NIH HHS / CA / P30 CA021765-31; United States / NCI NIH HHS / CA / P30CA027165
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors; 0 / Protein Kinase Inhibitors; 0 / Pyrimidines; 0 / Pyrroles; 0 / TWS 119; EC 2.7.11.26 / Glycogen Synthase Kinase 3
  • [Other-IDs] NLM/ NIHMS163451; NLM/ PMC2812657
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37. Montone KT, Barr FG, Zhang PJ, Feldman MD, LiVolsi VA: Embryonal and alveolar rhabdomyosarcoma of parameningeal sites in adults: a report of 13 cases. Int J Surg Pathol; 2009 Feb;17(1):22-30
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  • [Title] Embryonal and alveolar rhabdomyosarcoma of parameningeal sites in adults: a report of 13 cases.
  • This study reports 13 adult parameningeal rhabdomyosarcomas.
  • Nine lesions were alveolar, 3 were embryonal, and 1 could not be further classified.
  • PAX3-FKHR or PAX7-FKHR fusion transcripts or FKHR breaks were identified in 5 cases confirming a diagnosis of alveolar rhabdomyosarcoma.
  • Three cases were negative supporting a diagnosis of embryonal rhabdomyosarcoma.
  • Three patients are alive with no disease, 3 are alive with disease, 3 died of disease, and 4 patients are lost to follow-up.
  • Adult sinonasal rhabdomyosarcoma is uncommon and should be considered in the differential of sinonasal neoplasms.
  • Disease can occur in the elderly.
  • Desmin and myogenin can aid in the diagnosis but cytokeratin reactivity can be seen and care must be taken not to diagnose carcinoma.
  • [MeSH-major] Nasal Cavity. Nose Neoplasms / diagnosis. Paranasal Sinus Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Embryonal / diagnosis

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  • (PMID = 18945709.001).
  • [ISSN] 1066-8969
  • [Journal-full-title] International journal of surgical pathology
  • [ISO-abbreviation] Int. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors
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38. Moon HS, Kwon SW, Lee JH: A case of alveolar rhabdomyosarcoma of the ethmoid sinus invading the orbit in an adult. Korean J Ophthalmol; 2006 Mar;20(1):70-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of alveolar rhabdomyosarcoma of the ethmoid sinus invading the orbit in an adult.
  • PURPOSE: A case study and literature review of alveolar rhabdomyosarcoma (RMS) in an adult.
  • Endoscopic intranasal biopsy revealed alveolar RMS.
  • RESULTS: Immunohistochemical testing was positive for desmin, S-100, and smooth muscle actin (SMA), supporting the diagnosis of RMS.
  • CONCLUSIONS: Although rarely found in adults, RMS should be considered in the differential diagnosis of orbital tumors.
  • Immunohistochemical analysis plays an important role in the definitive diagnosis of RMS.
  • [MeSH-major] Ethmoid Sinus. Orbital Neoplasms / pathology. Paranasal Sinus Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Biopsy. Diagnosis, Differential. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Neoplasm Invasiveness. Tomography, X-Ray Computed

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  • [Cites] Cancer. 2001 Feb 15;91(4):794-803 [11241248.001]
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  • (PMID = 16768194.001).
  • [ISSN] 1011-8942
  • [Journal-full-title] Korean journal of ophthalmology : KJO
  • [ISO-abbreviation] Korean J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2908821
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39. Zibat A, Missiaglia E, Rosenberger A, Pritchard-Jones K, Shipley J, Hahn H, Fulda S: Activation of the hedgehog pathway confers a poor prognosis in embryonal and fusion gene-negative alveolar rhabdomyosarcoma. Oncogene; 2010 Dec 2;29(48):6323-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Activation of the hedgehog pathway confers a poor prognosis in embryonal and fusion gene-negative alveolar rhabdomyosarcoma.
  • Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and comprises two major histological subtypes: alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS).
  • Seventy-five percent of ARMS harbor reciprocal chromosomal translocations leading to fusion genes of the forkhead transcription factor FOXO1 and PAX3 or PAX7.
  • Here, we report that marker genes of active Hh signaling, that is, Patched1 (Ptch1), Gli1, Gli3 and Myf5, are expressed at significantly higher levels in ERMS and fusion gene-negative ARMS compared with fusion gene-positive ARMS in two distinct cohorts of RMS patients.
  • Consistently, Gli1 expression correlates with Ptch1 expression in ERMS and fusion gene-negative ARMS, but not in fusion gene-positive ARMS.
  • In addition, expression levels of MyoD1 are significantly lower in ERMS and fusion gene-negative ARMS, pointing to an inverse association of Hh activation and early muscle differentiation.
  • [MeSH-major] Hedgehog Proteins / physiology. Rhabdomyosarcoma, Alveolar / metabolism. Rhabdomyosarcoma, Embryonal / metabolism. Signal Transduction / physiology

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  • (PMID = 20818440.001).
  • [ISSN] 1476-5594
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GLI1 protein, human; 0 / GLI3 protein, human; 0 / Hedgehog Proteins; 0 / Kruppel-Like Transcription Factors; 0 / MYF5 protein, human; 0 / Myogenic Regulatory Factor 5; 0 / Nerve Tissue Proteins; 0 / Receptors, Cell Surface; 0 / Transcription Factors; 0 / patched receptors
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40. Downs-Kelly E, Shehata BM, López-Terrada D, Weaver J, Patel RM, Hartke M, Tubbs RR, Skacel M, Goldblum JR: The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. Diagn Mol Pathol; 2009 Sep;18(3):138-43
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  • [Title] The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma.
  • Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases.
  • We report our experience with a dual-color break-apart FISH probe for the detection of FOXO1 (13q14) rearrangements in neoplasms within the differential diagnosis of ARMS, using routinely processed formalin-fixed, paraffin-embedded tissues.
  • A total of 52 sarcomas were analyzed including ARMS (n = 25), embryonal rhabdomyosarcomas (n = 8), neuroblastoma (n = 1), desmoplastic small round cell tumors (n = 2), Ewing sarcoma/primitive neuroectodermal tumors (EWS/PNET; n = 15), and round cell liposarcoma (n = 1).
  • Cytogenetics and/or reverse transcription polymerase chain reaction data were available on a subset of the ARMS (n = 11) and EWS/PNET cases (n = 5).
  • FOXO1 gene rearrangements were identified in 88% (22/25) of ARMS (mean: 91% positive cells/case; range: 50% to 100%), whereas no rearrangements were detected in the other neoplasms examined (mean: 1.4% positive cells/case; range: 0% to 4%).
  • FOXO1 (13q14) FISH on formalin-fixed, paraffin-embedded tissues samples showed excellent concordance with reverse transcription polymerase chain reaction and cytogenetic analyses in ARMS cases, demonstrated excellent specificity (100%) when applied to potential mimickers such as EWS/PNET, and played an important role in the differential diagnosis of small round cell tumors.
  • [MeSH-major] In Situ Hybridization, Fluorescence / methods. Pathology / methods. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 19704258.001).
  • [ISSN] 1533-4066
  • [Journal-full-title] Diagnostic molecular pathology : the American journal of surgical pathology, part B
  • [ISO-abbreviation] Diagn. Mol. Pathol.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Fixatives; 0 / Forkhead Transcription Factors; 1HG84L3525 / Formaldehyde
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41. Uchida K, Negoro K, Nakajima H, Inukai T, Yayama T, Mwaka ES, Tanizawa T, Imamura Y, Baba H: Alveolar rhabdomyosarcoma arising from the infraspinatus muscle in a child treated with subtotal scapulectomy and chemoradiotherapy: a case study. J Shoulder Elbow Surg; 2009 Jul-Aug;18(4):e21-6
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  • [Title] Alveolar rhabdomyosarcoma arising from the infraspinatus muscle in a child treated with subtotal scapulectomy and chemoradiotherapy: a case study.

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  • (PMID = 19559365.001).
  • [ISSN] 1532-6500
  • [Journal-full-title] Journal of shoulder and elbow surgery
  • [ISO-abbreviation] J Shoulder Elbow Surg
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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42. Yasuda T, Perry KD, Nelson M, Bui MM, Nasir A, Goldschmidt R, Gnepp DR, Bridge JA: Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature. Hum Pathol; 2009 Mar;40(3):341-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature.
  • Alveolar rhabdomyosarcoma is remarkably rare in adults older than 45 years.
  • Initial immunoprofiling of a small cell neoplasm of the head and neck region in an older adult may not include myogenic markers.
  • A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements.
  • The purpose of this study was to document the clinicopathologic, immunophenotypic, and genetic features of head/neck alveolar rhabdomyosarcoma in older adults.
  • Each neoplasm was composed of undifferentiated, small round cells in a predominantly solid pattern.
  • Definitive alveolar rhabdomyosarcoma diagnoses were confirmed genetically.
  • This study illustrates the diagnosis of head/neck alveolar rhabdomyosarcoma in older adults is complicated by its rarity, lack of an alveolar pattern, and a potentially misleading immunoprofile (CD56 and synaptophysin immunoreactivity) if myogenic markers are not used.
  • Both PAX3- and PAX7-FOXO1 alveolar rhabdomyosarcomas were identified in these patients.
  • In children, PAX7-FOXO1 alveolar rhabdomyosarcoma is associated with a significantly longer event-free survival.
  • In contrast, adult alveolar rhabdomyosarcoma behaves more aggressively with a worse overall survival than pediatric alveolar rhabdomyosarcoma.

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  • [Cites] Am J Pathol. 1991 Aug;139(2):275-86 [1867319.001]
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  • (PMID = 18973919.001).
  • [ISSN] 1532-8392
  • [Journal-full-title] Human pathology
  • [ISO-abbreviation] Hum. Pathol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA036727-249009; United States / NCI NIH HHS / CA / P30 CA036727; United States / NCI NIH HHS / CA / P30 CA 36727; United States / NCI NIH HHS / CA / P30 CA036727-249009
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / Oncogene Proteins, Fusion; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors
  • [Other-IDs] NLM/ NIHMS96749; NLM/ PMC2753286
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43. Cerveira N, Torres L, Ribeiro FR, Henrique R, Pinto A, Bizarro S, Ferreira AM, Lopes C, Teixeira MR: Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcoma. Cancer Genet Cytogenet; 2005 Dec;163(2):138-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcoma.
  • The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes.
  • A solid variant of ARMS that is morphologically indistinguishable from ERMS has been described recently.
  • We present two cases with an initial histopathologic diagnosis of ERMS in which the combined findings by cytogenetic, reverse-transcriptase polymerase chain reaction (RT-PCR), and comparative genomic hybridization (CGH) analyses demonstrate that both tumors were in fact the solid variant of ARMS.
  • The cytogenetic analysis of patient 1 revealed a t(2;13)(q35;q14) and the RT-PCR study detected the corresponding PAX3-FKHR chimeric transcript.
  • In patient 2, the cytogenetic finding of multiple trisomies was compatible with the initial histopathologic diagnosis of ERMS, but the finding of a PAX7-FKHR fusion transcript by RT-PCR pointed to the diagnosis of ARMS.
  • Interestingly, the CGH findings of this case reconciled the molecular and cytogenetic data by detecting, in addition to the trisomies, amplification of chromosomal bands 1p36 and 13q14, where the PAX7 and FKHR genes are located, respectively.
  • Our data indicate that this multimodal genetic analysis could be important for the differential diagnosis of these tumors.
  • Furthermore, our findings and previous studies indicate that there are no apparent genetic differences between solid variant and typical ARMS.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics

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  • (PMID = 16337856.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors; 0 / RNA, Messenger
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44. Kazanowska B, Reich A, Stegmaier S, Békássy AN, Leuschner I, Chybicka A, Koscielniak E: Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children. Fetal Pediatr Pathol; 2007 Jan-Feb;26(1):17-31
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children.
  • Rhabdomyosarcoma is a highly malignant embryonic tumor of childhood.
  • Two specific translocations t(2;13)(q35;q14) and t(1;13)(p36;q14) have been identified in about 75-80% of ARMS cells.
  • The extent of disease was graded according to clinical staging system with following distribution: 3 children with stage I, 4 with stage II, 23 with stage III, and 18 with stage IV spread disease having distant metastases.
  • PAX3-FKHR positive patients with locoregional disease had significantly poorer outcome compared with the ones with PAX7-FKHR positive tumors (p = 0.04).
  • In addition, fusion gene analysis is a helpful tool in differential diagnosis of poorly differentiated soft tissue tumors.
  • [MeSH-major] Forkhead Transcription Factors / genetics. PAX7 Transcription Factor / genetics. Paired Box Transcription Factors / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Gene Fusion. Head and Neck Neoplasms / diagnosis. Head and Neck Neoplasms / genetics. Head and Neck Neoplasms / pathology. Humans. Infant. Male. Neoplasm Staging. Prognosis. Retrospective Studies. Survival Analysis. Translocation, Genetic. Urinary Bladder Neoplasms / diagnosis. Urinary Bladder Neoplasms / genetics. Urinary Bladder Neoplasms / pathology. Urogenital Neoplasms / diagnosis. Urogenital Neoplasms / genetics. Urogenital Neoplasms / pathology

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  • (PMID = 17613043.001).
  • [ISSN] 1551-3815
  • [Journal-full-title] Fetal and pediatric pathology
  • [ISO-abbreviation] Fetal Pediatr Pathol
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors
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45. Mercado GE, Barr FG: Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances. Curr Mol Med; 2007 Feb;7(1):47-61
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  • [Title] Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances.
  • Rhabdomyosarcoma is the most frequent soft tissue sarcoma in the pediatric population.
  • Two main histopathologic variants have been described, embryonal (ERMS) and alveolar (ARMS), which demonstrate clinical and genetic differences.
  • In particular, most ARMS but not ERMS tumors are characterized by the presence of recurrent chromosomal translocations, which have been cytogenetically defined as t(2;13)(q35;q14) and t(1;13)(p36;q14).
  • These chimeric proteins are hypothesized to generate a novel transcriptional program in the target cell, thereby contributing to multiple aspects of ARMS tumorigenesis.
  • This review highlights recent advances in numerous areas of biomedical investigation that are providing new insights into the biology, molecular pathology, and translational science of ARMS: the identification of downstream targets of PAX3-FKHR and collaborating events in the process of tumorigenesis and metastasis; generation of animal models based on the gene fusion and collaborating events; development of new assays for diagnosis, prognosis, and detection of minimal disseminated disease; and exploration of immune recognition of this tumor and the fusion protein.
  • [MeSH-major] Oncogene Proteins, Fusion / genetics. Paired Box Transcription Factors / genetics. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Animals. Chromosomes, Human, Pair 13 / genetics. Chromosomes, Human, Pair 2 / genetics. Disease Models, Animal. Humans. Translocation, Genetic

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  • (PMID = 17311532.001).
  • [ISSN] 1566-5240
  • [Journal-full-title] Current molecular medicine
  • [ISO-abbreviation] Curr. Mol. Med.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA64202; United States / NCI NIH HHS / CA / CA87812; United States / NCI NIH HHS / CA / CA89461
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / PAX3-FOXO1A fusion protein, human; 0 / Paired Box Transcription Factors
  • [Number-of-references] 101
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46. Javangula KC, O'Regan DJ: Emergency surgery for left atrial metastatic alveolar rhabdomyosarcoma manifesting as a right atrial mass. Ann Thorac Surg; 2008 Sep;86(3):1008-11
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  • [Title] Emergency surgery for left atrial metastatic alveolar rhabdomyosarcoma manifesting as a right atrial mass.
  • We report the case of a 43-year-old woman with a history of alveolar rhabdomyosarcoma of the forearm, scalp, and paraspinal region who developed acute shortness of breath owing to a tumor arising from the left atrium and extending through the coronary sinus.
  • Emergency resection of the atrial mass was performed, and histologic analysis confirmed the presence of metastatic rhabdomyosarcoma.
  • To our knowledge, this is the first reported case of emergency surgical resection of intracardiac metastatic alveolar rhabdomyosarcoma.
  • [MeSH-major] Heart Neoplasms / secondary. Heart Neoplasms / surgery. Rhabdomyosarcoma, Alveolar / pathology. Rhabdomyosarcoma, Alveolar / secondary. Rhabdomyosarcoma, Alveolar / surgery. Soft Tissue Neoplasms / pathology

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  • (PMID = 18721606.001).
  • [ISSN] 1552-6259
  • [Journal-full-title] The Annals of thoracic surgery
  • [ISO-abbreviation] Ann. Thorac. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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47. Doelken R, Weigel S, Schueler F, Doelken G, Beck JF: Poor outcome of two children with relapsed state stage IV alveolar rhabdomyosarcoma after allogeneic stem cell transplantation. Pediatr Hematol Oncol; 2005 Dec;22(8):699-703
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  • [Title] Poor outcome of two children with relapsed state stage IV alveolar rhabdomyosarcoma after allogeneic stem cell transplantation.
  • The authors report on 2 boys, 11(1/2) and 13 years old, who received allogeneic stem cell transplantation (alloSCT) from their HLA-identical sibling after relapse of stage IV alveolar rhabdomyosarcoma.
  • After alloSCT both patients experienced disease progression at the primary tumor location sites and died due to the underlying disease 146 and 379 days after transplantation.
  • The authors conclude that an alloSCT derived graft versus tumor effect might not be effective enough to overcome alveolar rhabdomyosarcoma when transplantation is carried out in a nonremission status.
  • [MeSH-major] Hematopoietic Stem Cell Transplantation / adverse effects. Rhabdomyosarcoma, Alveolar / therapy
  • [MeSH-minor] Adolescent. Child. Disease Progression. Fatal Outcome. Germany / epidemiology. Graft vs Tumor Effect / drug effects. Graft vs Tumor Effect / immunology. Humans. Male. Neoplasm Staging. Recurrence. Treatment Outcome

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  • (PMID = 16251176.001).
  • [ISSN] 0888-0018
  • [Journal-full-title] Pediatric hematology and oncology
  • [ISO-abbreviation] Pediatr Hematol Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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48. Jones AE, Albano EA, Lovell MA, Hunger SP: Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A. Pediatr Blood Cancer; 2010 Dec 1;55(6):1213-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A.
  • Rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma, accounts for 3% of childhood malignancies.
  • We describe a previously unreported association of MEN-2A with metastatic alveolar RMS and review the literature on associated hereditary cancer predisposition syndromes and current therapeutic options.
  • The diagnosis of RMS should prompt consideration of screening for familial genetic syndromes in certain patients.
  • [MeSH-major] Multiple Endocrine Neoplasia Type 2a / pathology. Rhabdomyosarcoma, Alveolar / secondary

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  • (PMID = 20533522.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / T32 CA082086
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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49. Jiang SL, Zhou CR: [Alveolar rhabdomyosarcoma of kidney]. Zhonghua Bing Li Xue Za Zhi; 2006 Mar;35(3):189
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  • [Title] [Alveolar rhabdomyosarcoma of kidney].
  • [MeSH-major] Adenoma, Villous / pathology. Kidney Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Rhabdomyosarcoma, Alveolar / pathology. Ureteral Neoplasms / pathology
  • [MeSH-minor] Diagnosis, Differential. Humans. Immunohistochemistry. Lymphoma / metabolism. Lymphoma / pathology. Lymphoma / surgery. Male. Middle Aged. Myosins / metabolism. Vimentin / metabolism

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  • (PMID = 16630516.001).
  • [ISSN] 0529-5807
  • [Journal-full-title] Zhonghua bing li xue za zhi = Chinese journal of pathology
  • [ISO-abbreviation] Zhonghua Bing Li Xue Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Vimentin; EC 3.6.4.1 / Myosins
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50. Puranik RB, Naik S, Kulkarni S, Kulkarni MH: Alveolar rhabdomyosarcoma of vulva. Indian J Pathol Microbiol; 2010 Jan-Mar;53(1):167-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma of vulva.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / pathology. Vulva / pathology. Vulvar Neoplasms / diagnosis. Vulvar Neoplasms / pathology

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  • (PMID = 20090257.001).
  • [ISSN] 0974-5130
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] India
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51. Liapis K, Alevizopoulos N, Delimpasi S, Apostolidis J, Harhalakis N, Rontogianni D, Nikiforakis E: Alveolar rhabdomyosarcoma mimicking acute leukemia at presentation. J BUON; 2009 Jul-Sep;14(3):529-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Alveolar rhabdomyosarcoma mimicking acute leukemia at presentation.
  • [MeSH-major] Maxillary Sinus Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 19810151.001).
  • [ISSN] 1107-0625
  • [Journal-full-title] Journal of B.U.ON. : official journal of the Balkan Union of Oncology
  • [ISO-abbreviation] J BUON
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Greece
  • [Chemical-registry-number] 0 / Antineoplastic Agents
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52. van den Broeke LT, Pendleton CD, Mackall C, Helman LJ, Berzofsky JA: Identification and epitope enhancement of a PAX-FKHR fusion protein breakpoint epitope in alveolar rhabdomyosarcoma cells created by a tumorigenic chromosomal translocation inducing CTL capable of lysing human tumors. Cancer Res; 2006 Feb 1;66(3):1818-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification and epitope enhancement of a PAX-FKHR fusion protein breakpoint epitope in alveolar rhabdomyosarcoma cells created by a tumorigenic chromosomal translocation inducing CTL capable of lysing human tumors.
  • If the fusion protein is responsible for the malignant transformation, its expression cannot be lost by the tumor to escape immune responses against this tumor antigen.
  • Here, we identify such a fusion protein breakpoint epitope in the PAX-FKHR fusion protein created by the t(2;13) translocation present in 80% of cases of alveolar rhabdomyosarcoma, a highly aggressive pediatric soft-tissue sarcoma.
  • These human peptide-specific CTL lyse human HLA-B7+ rhabdomyosarcoma tumor cells.
  • This epitope-enhanced peptide may serve as a candidate cancer vaccine for HLA-B7+ patients with alveolar rhabdomyosarcoma.
  • [MeSH-major] Epitopes / immunology. Forkhead Transcription Factors / immunology. Immunotherapy, Adoptive / methods. Oncogene Proteins, Fusion / immunology. Paired Box Transcription Factors / immunology. Rhabdomyosarcoma, Alveolar / immunology. T-Lymphocytes, Cytotoxic / immunology

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  • (PMID = 16452243.001).
  • [ISSN] 0008-5472
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Epitopes; 0 / Forkhead Transcription Factors; 0 / HLA-B7 Antigen; 0 / Oncogene Proteins, Fusion; 0 / Paired Box Transcription Factors
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53. Lisboa S, Cerveira N, Vieira J, Torres L, Ferreira AM, Afonso M, Norton L, Henrique R, Teixeira MR: Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor. Pediatr Blood Cancer; 2008 Oct;51(4):554-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor.
  • Alveolar rhabdomyosarcoma (ARMS) is characterized by two pathognomonic translocations, both involving the FOXO1 gene.
  • Interphase FISH analysis with specific probes evidenced a rearrangement involving the FOXO1 gene and RT-PCR identified the PAX7-FOXO1 fusion transcript.
  • These data show a case of ARMS with no evidence of primary tumor presenting the PAX7-FOXO1 fusion gene.
  • [MeSH-major] Bone Marrow Neoplasms / diagnosis. Bone Marrow Neoplasms / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics

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  • [Copyright] (c) 2008 Wiley-Liss, Inc.
  • (PMID = 18561177.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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54. Barr FG, Duan F, Smith LM, Gustafson D, Pitts M, Hammond S, Gastier-Foster JM: Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. Genes Chromosomes Cancer; 2009 Aug;48(8):661-72
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  • [Title] Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.
  • Alveolar rhabdomyosarcoma (ARMS) is an aggressive pediatric cancer that is related to the skeletal muscle lineage and characterized by recurrent chromosomal translocations.
  • Within the ARMS category, there is clinical and genetic heterogeneity, consistent with the premise that "primary" genetic events collaborate with "secondary" events to give rise to subsets with varying clinical features.
  • Previous studies demonstrated that genomic amplification occurs frequently in ARMS.
  • Based on the copy number array data, we sublocalized the minimum common regions of 2p24 and 12q13-q14 amplification to a 0.83 Mb region containing the DDX1 and MYCN genes, and a 0.55 Mb region containing 27 genes, respectively.
  • Comparison with fusion status revealed that 2p24 amplification occurred preferentially in cases positive for PAX3-FOXO1 or PAX7-FOXO1 while 12q13-q14 amplification occurred preferentially in PAX3-FOXO1-positive cases.
  • Expression studies demonstrated that MYCN was usually overexpressed in cases with 2p24 amplification while multiple genes were overexpressed in cases with 12q13-q14 amplification.
  • Finally, although 2p24 amplification did not have a significant association with clinical outcome, 12q13-q14 amplification was associated with significantly worse failure-free and overall survival that was independent of gene fusion status.

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  • (PMID = 19422036.001).
  • [ISSN] 1098-2264
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA81659; United States / NCI NIH HHS / CA / CA24507; United States / NCI NIH HHS / CA / R01 CA104896; United States / NCI NIH HHS / CA / CA104896; United States / NCI NIH HHS / CA / U01 CA054021; United States / NCI NIH HHS / CA / CA081659-02; United States / NCI NIH HHS / CA / U10 CA081659-02; United States / NCI NIH HHS / CA / U10 CA098543; United States / NCI NIH HHS / CA / R01 CA104896-04; United States / NCI NIH HHS / CA / U10 CA024507; United States / NCI NIH HHS / CA / U10 CA98543; United States / NCI NIH HHS / CA / CA054021
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / MYCN protein, human; 0 / Nuclear Proteins; 0 / Oncogene Proteins; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors; EC 2.7.11.22 / CDK4 protein, human; EC 2.7.11.22 / Cyclin-Dependent Kinase 4; EC 3.6.1.- / DDX1 protein, human; EC 3.6.4.13 / DEAD-box RNA Helicases
  • [Other-IDs] NLM/ NIHMS138256; NLM/ PMC2739400
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55. Barr FG, Smith LM, Lynch JC, Strzelecki D, Parham DM, Qualman SJ, Breitfeld PP: Examination of gene fusion status in archival samples of alveolar rhabdomyosarcoma entered on the Intergroup Rhabdomyosarcoma Study-III trial: a report from the Children's Oncology Group. J Mol Diagn; 2006 May;8(2):202-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Examination of gene fusion status in archival samples of alveolar rhabdomyosarcoma entered on the Intergroup Rhabdomyosarcoma Study-III trial: a report from the Children's Oncology Group.
  • Alveolar rhabdomyosarcoma (ARMS) is a soft tissue cancer in which chromosomal translocations generate PAX3-FKHR and PAX7-FKHR gene fusions.
  • We applied this approach to a convenience sample of 78 formalin-fixed, paraffin-embedded ARMS tumors from the Intergroup Rhabdomyosarcoma Study (IRS)-III clinical trial and obtained satisfactory results in 59 (76%) cases.
  • In a subsequent clinical analysis, we found that IRS-III ARMS cases analyzed for fusion status had a significantly improved outcome compared to IRS-III ARMS cases that were not available for fusion analysis.

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  • (PMID = 16645206.001).
  • [ISSN] 1525-1578
  • [Journal-full-title] The Journal of molecular diagnostics : JMD
  • [ISO-abbreviation] J Mol Diagn
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA24507; United States / NCI NIH HHS / CA / CA89461; United States / NCI NIH HHS / CA / CA98543; United States / NCI NIH HHS / CA / U10 CA098413; United States / NCI NIH HHS / CA / U10 CA098543; United States / NCI NIH HHS / CA / CA98413; United States / NCI NIH HHS / CA / U10 CA024507; United States / NCI NIH HHS / CA / R01 CA089461
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / Neoplasm Proteins; 0 / PAX3 protein, human; 0 / PAX7 Transcription Factor; 0 / PAX7 protein, human; 0 / Paired Box Transcription Factors; 0 / RNA, Messenger
  • [Other-IDs] NLM/ PMC1867584
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56. Elboukhari A, Errami N, Hemmaoui B, Nadour K, Darouassi Y, Zohair A, Azendour B, Abrouq A, Albouzidi A: [Alveolar rhabdomyosarcoma of the parotid gland]. Rev Stomatol Chir Maxillofac; 2007 Dec;108(6):536-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Alveolar rhabdomyosarcoma of the parotid gland].
  • [Transliterated title] Rhabdomyosarcome alvéolaire de la glande parotide.
  • INTRODUCTION: Alveolar rhabdomyosarcoma of salivary glands is a rare malignant neoplasm, presenting a striated muscular differentiation.
  • OBSERVATION: We report the case of a 57 year-old man presenting with a primary alveolar rhabdomyosarcoma of the parotid gland.
  • DISCUSSION: According to literature data, alveolar rhabdomyosarcoma of the parotid gland is exceptionally described after 40 years of age.
  • [MeSH-major] Parotid Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 17919669.001).
  • [ISSN] 0035-1768
  • [Journal-full-title] Revue de stomatologie et de chirurgie maxillo-faciale
  • [ISO-abbreviation] Rev Stomatol Chir Maxillofac
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / MyoD Protein; 0 / Vimentin
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57. Treetipsatit J, Kittikowit W, Zielenska M, Chaipipat M, Thorner PS, Shuangshoti S: Mixed embryonal/alveolar rhabdomyosarcoma of the prostate: report of a case with molecular genetic studies and literature review. Pediatr Dev Pathol; 2009 Sep-Oct;12(5):383-9
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  • [Title] Mixed embryonal/alveolar rhabdomyosarcoma of the prostate: report of a case with molecular genetic studies and literature review.
  • Alveolar rhabdomyosarcoma (RMS) is 1 of 2 main subtypes of RMS in the pediatric age group and tends to occur in the extremities.
  • We report a 28-year-old male with a prostatic tumor that was excised en bloc and showed a RMS with separate areas of embryonal and solid alveolar morphologies at the light microscopic level.
  • Both areas showed diffuse nuclear expression for myogenin, and both areas expressed the PAX3-FKHR fusion gene, a genetic change associated with alveolar but not embryonal RMS.
  • A review of the literature documented only 5 cases of RMS primary to the prostate showing alveolar or mixed histology.
  • Although the diagnostic category of mixed embryonal/alveolar RMS remains in use, the nature of this type of RMS is incompletely understood.
  • In our case, although the morphology was mixed embryonal/alveolar, at the genetic level this tumor was alveolar in nature.
  • [MeSH-major] Neoplasms, Complex and Mixed / pathology. Prostatic Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology. Rhabdomyosarcoma, Embryonal / pathology

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  • (PMID = 19175284.001).
  • [ISSN] 1093-5266
  • [Journal-full-title] Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • [ISO-abbreviation] Pediatr. Dev. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human
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58. Rivasi F, Botticelli L, Bettelli SR, Masellis G: Alveolar rhabdomyosarcoma of the uterine cervix. A case report confirmed by FKHR break-apart rearrangement using a fluorescence in situ hybridization probe on paraffin-embedded tissues. Int J Gynecol Pathol; 2008 Jul;27(3):442-6
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  • [Title] Alveolar rhabdomyosarcoma of the uterine cervix. A case report confirmed by FKHR break-apart rearrangement using a fluorescence in situ hybridization probe on paraffin-embedded tissues.
  • Alveolar rhabdomyosarcoma (ARMS) is a very rare malignant soft tissue tumor found in the uterine cervix.
  • Pathologic examination showed multiple leiomyomas in the uterus and ARMS in the cervix.
  • The literature has been reviewed; the histologic differential diagnosis of this rare lesion has been discussed and FISH has been suggested to be useful in differentiating ARMS from other poorly differentiated round cell tumors.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / pathology. Uterine Cervical Neoplasms / pathology


59. Nishio J, Althof PA, Bailey JM, Zhou M, Neff JR, Barr FG, Parham DM, Teot L, Qualman SJ, Bridge JA: Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma. Lab Invest; 2006 Jun;86(6):547-56
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  • [Title] Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma.
  • A valuable diagnostic adjunct and important prognostic parameter in alveolar rhabdomyosarcoma (ARMS) is the identification of translocations t(2;13)(q35;q14) and t(1;13)(p36;q14), and the associated PAX3-FKHR and PAX7-FKHR fusion transcripts, respectively.
  • Most RMS fusion gene type studies have been based on reverse transcriptase-polymerase chain reaction (RT-PCR) detection of the fusion transcript, a technique limited by RNA quality and failure of devised primer sets to detect unusual variants.
  • (1) distinguish between the two most common ARMS-associated fusion genes;.
  • (3) assess histologic components in mixed alveolar/embryonal RMS; and (4) be performed on paraffinized tissue.
  • FISH analyses of 75 specimens (40 ARMS, 16 ERMS, 8 mixed ARMS/ERMS, and 11 non-RMS tumors) using selected cosmid clone, bacterial, P1-derived, and yeast artificial chromosome probe sets were successful in all but two cases.
  • Among specimens with informative results for both FISH and RT-PCR or standard karyotyping, PAX/FKHR classification results were concordant in 94.6% (53/56).
  • The three discordant cases included one exhibiting a t(2;13) by FISH that was subsequently confirmed by repeat RT-PCR, a second showing a rearrangement of the PAX3 locus only (consistent with the presence of a PAX3 variant translocation), and a third revealing a t(2;13) by FISH that lacked this translocation cytogenetically.
  • Both alveolar and embryonal components of the mixed ARMS/ERMS subtype were negative for PAX3, PAX7, and FKHR rearrangements, a surprising finding confirmed by RT-PCR and/or conventional karyotyping.
  • These data demonstrate that FISH with newly designed probe sets is a reliable and highly specific method of detecting t(1;13) and t(2;13) in routinely processed tissue and may be useful in differentiating ARMS from other small round cell tumors.
  • The findings also suggest that FISH may be a more sensitive assay than RT-PCR in some settings, capable of revealing variant translocations.
  • [MeSH-major] In Situ Hybridization, Fluorescence. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics

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  • (PMID = 16607381.001).
  • [ISSN] 0023-6837
  • [Journal-full-title] Laboratory investigation; a journal of technical methods and pathology
  • [ISO-abbreviation] Lab. Invest.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA36727; United States / NCI NIH HHS / CA / CA89461; United States / NCI NIH HHS / CA / CA98543
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion
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60. Siegel HJ, Connor GS, Lee D, Lopez-Ben R, Kelly DR: Synchronous bifocal alveolar rhabdomyosarcoma: a case report. J Bone Joint Surg Br; 2006 Jul;88(7):955-8
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  • [Title] Synchronous bifocal alveolar rhabdomyosarcoma: a case report.
  • We report a case of bifocal rhabdomyosarcoma involving the hand and thigh in an 11-year-old female.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / pathology. Soft Tissue Neoplasms / pathology

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  • (PMID = 16799004.001).
  • [ISSN] 0301-620X
  • [Journal-full-title] The Journal of bone and joint surgery. British volume
  • [ISO-abbreviation] J Bone Joint Surg Br
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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61. Jha P, Frölich AM, McCarville B, Navarro OM, Babyn P, Goldsby R, Daldrup-Link H: Unusual association of alveolar rhabdomyosarcoma with pancreatic metastasis: emerging role of PET-CT in tumor staging. Pediatr Radiol; 2010 Aug;40(8):1380-6
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  • [Title] Unusual association of alveolar rhabdomyosarcoma with pancreatic metastasis: emerging role of PET-CT in tumor staging.
  • BACKGROUND: Pancreatic metastases in childhood cancer have been rarely reported in the radiology literature although ample evidence exists in pathology reports for its occurrence in patients with alveolar rhabdomyosarcomas (RMS).
  • OBJECTIVE: Assess the occurrence of pancreatic metastases in alveolar rhabdomyosarcomas, increase awareness of this association and reassess current staging protocols.
  • RESULTS: Pancreatic metastases occurred in eight patients with alveolar RMS.
  • Four of these presented at diagnosis and four with disease recurrence.
  • In recurrent disease, the duration between the diagnosis of the primary tumor and pancreatic metastases varied from 8 months to 6 years (mean +/- SD: 2.38 +/- 2.49 years).
  • Pancreatic metastases were not associated with certain primary tumor locations or presence of other metastases, mandating an evaluation of the pancreas in all cases of alveolar rhabdomyosarcomas.
  • CONCLUSION: Radiologists should be sensitized and actively evaluate the pancreas in patients with alveolar RMS.
  • [MeSH-major] Pancreatic Neoplasms / complications. Pancreatic Neoplasms / radiography. Positron-Emission Tomography. Rhabdomyosarcoma, Alveolar / complications. Rhabdomyosarcoma, Alveolar / radiography
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Humans. Male. Neoplasm Staging / methods. Recurrence. Retrospective Studies. Tomography, X-Ray Computed

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  • [Cites] Curr Opin Oncol. 2000 Jul;12(4):337-44 [10888419.001]
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  • (PMID = 20180103.001).
  • [ISSN] 1432-1998
  • [Journal-full-title] Pediatric radiology
  • [ISO-abbreviation] Pediatr Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Other-IDs] NLM/ PMC2895865
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62. Bolger JC, Walsh JC, Hughes RE, Eustace SJ, Harrington P: Alveolar rhabdomyosarcoma originating between the fourth and fifth metatarsal--case report and literature review. Foot Ankle Surg; 2010 Sep;16(3):e51-4
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  • [Title] Alveolar rhabdomyosarcoma originating between the fourth and fifth metatarsal--case report and literature review.
  • We report a case of alveolar rhabdomyosarcoma arising between the fourth and fifth metatarsal.
  • Percutaneous biopsy revealed an alveolar rhabdomyosarcoma.
  • Staging scans showed advanced metastatic disease.
  • This highly malignant lesion remains challenging to diagnose, and difficult to treat successfully.
  • [MeSH-major] Metatarsus. Rhabdomyosarcoma, Alveolar / diagnosis
  • [MeSH-minor] Adolescent. Biopsy. Diagnosis, Differential. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Male. Positron-Emission Tomography

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  • [Copyright] Copyright (c) 2010 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.
  • (PMID = 20654999.001).
  • [ISSN] 1460-9584
  • [Journal-full-title] Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons
  • [ISO-abbreviation] Foot Ankle Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] France
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63. Keller C, Capecchi MR: New genetic tactics to model alveolar rhabdomyosarcoma in the mouse. Cancer Res; 2005 Sep 1;65(17):7530-2
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  • [Title] New genetic tactics to model alveolar rhabdomyosarcoma in the mouse.
  • Using conditional knock-in and knock-out techniques, we designed a mouse model of the childhood muscle cancer alveolar rhabdomyosarcoma (ARMS) that is driven by the chromosomal translocation product, Pax3:Fkhr.
  • Tumors that closely recapitulate the spectrum of molecular markers and histology seen in human ARMS are exclusively produced in this model.
  • This model offers new insight into the roots of alveolar rhabdomyosarcoma and illustrates the utility of Cre-loxP technology for studying otherwise inaccessible cancers in the mouse.
  • [MeSH-major] DNA-Binding Proteins / genetics. Disease Models, Animal. Oncogene Proteins, Fusion / genetics. Rhabdomyosarcoma, Alveolar / genetics. Transcription Factors / genetics

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  • (PMID = 16140913.001).
  • [ISSN] 0008-5472
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Forkhead Transcription Factors; 0 / Foxo1 protein, mouse; 0 / Oncogene Proteins, Fusion; 0 / Paired Box Transcription Factors; 0 / Transcription Factors; 138016-91-8 / Pax3 protein, mouse
  • [Number-of-references] 8
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64. Comandone A, Boglione A, Pochettino P, Berno E, Inguì M, Papotti M, Borasio P, Maggi G, Brach Del Prever E, Gino G: Primary sarcomas of the lungs and mediastinum: Clinicopathological study and therapy results of Piedmontese Group for Sarcomas. J Clin Oncol; 2009 May 20;27(15_suppl):e21509

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  • Pts characteristics: median age 41 (19-80 y), male/female 19/12; symptoms at diagnosis: dyspnoea (42%), chest and shoulder pain (39%), cough (35%), hemophtoae (13%), discomfort (10%).
  • 26 lung sarcomas presented as a singular mass in 23 cases and as a metastatic disease in 3.
  • The histology were: peripheral nerve tumour 7, leiomyosarcoma 4, MFH 2, fibrosarcoma 2, liposarcoma 1, angiosarcoma 2, undifferentiated sarcoma 1, solitary fibrous tumour 2, rhabdomyosarcoma 2, synovialsarcoma 2, pulmonary artery sarcoma 1, pleuropolmonary blastoma 1, malignant hemangiopericytoma 1, mixoid chondrosarcoma 1, ectopic osteosarcoma 1, aggressive fibromatosis 1.
  • Only 4 pts received neoadjuvant chemotherapy, 11 adjuvant CT, 5 exclusive CT + RT for inoperable disease.
  • Of these only 8 are alive (2 with disease).
  • Volume of disease, complete resection and grading are the dominant prognostic factors.

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  • (PMID = 27963441.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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65. Cannon GM Jr, Polsky EG, Bellinger MF: Metastatic intratesticular alveolar rhabdomyosarcoma discovered after induction of systemic chemotherapy. Urology; 2007 May;69(5):982.e13-5
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  • [Title] Metastatic intratesticular alveolar rhabdomyosarcoma discovered after induction of systemic chemotherapy.
  • Alveolar rhabdomyosarcoma is an aggressive cancer that can metastasize to a variety of organs.
  • We present what we believe to be the first reported case of metastatic intratesticular rhabdomyosarcoma in a patient presenting with testicular pain shortly after the induction of systemic chemotherapy.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Bone Neoplasms / drug therapy. Bone Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / drug therapy. Rhabdomyosarcoma, Alveolar / secondary. Testicular Neoplasms / diagnosis. Testicular Neoplasms / secondary
  • [MeSH-minor] Adolescent. Biopsy, Needle. Follow-Up Studies. Humans. Incidental Findings. Male. Neoplasm Staging. Orchiectomy. Remission Induction. Risk Assessment. Treatment Outcome

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  • (PMID = 17482950.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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66. Magnan HD, Chou T, LaQuaglia MP, Gerald W, Ladanyi M, Merchant MS: Elevated expression of VEGFR-2 and VEGFA in desmoplastic small round cell tumor (DSRCT) and activity of bevacizumab and irinotecan in a xenograft model of DSRCT. J Clin Oncol; 2009 May 20;27(15_suppl):10016

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: RNA was extracted from frozen tumor samples (DSRCT, alveolar soft part sarcoma, alveolar rhabdomyosarcoma, synovial sarcoma, and Ewing sarcoma) and a human DSRCT cell line, JN-DSRCT.

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  • (PMID = 27962501.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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67. Miyoshi I, Uemura Y, Muneishi H, Miyazaki J, Taguchi H: Bone marrow metastasis of alveolar rhabdomyosarcoma. Intern Med; 2005 Jun;44(6):677-8
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  • [Title] Bone marrow metastasis of alveolar rhabdomyosarcoma.
  • [MeSH-major] Bone Marrow Neoplasms / secondary. Pelvic Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / secondary
  • [MeSH-minor] Adult. Biopsy. Diagnosis, Differential. Female. Humans. Leukemia / diagnosis. Perineum

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  • (PMID = 16020907.001).
  • [ISSN] 0918-2918
  • [Journal-full-title] Internal medicine (Tokyo, Japan)
  • [ISO-abbreviation] Intern. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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68. Rudnik-Schöneborn S, Anhuf D, Koscielniak E, Zerres K: Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Neuromuscul Disord; 2005 Jan;15(1):45-7
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  • [Title] Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
  • We report two unrelated patients with infantile spinal muscular atrophy (SMA) types II and IIIa who developed alveolar rhabdomyosarcoma (ARMS) at 15 and 19 years, respectively.
  • They displayed a similar histology and shared the most common translocation, t(2;13)(q35;14) in ARMS.
  • Since cell proliferation is increased in de- and regenerating muscle and the PAX3/FKHR fusion protein activates myogenic transcription, it is tempting to speculate whether severe muscle atrophy in SMA might predispose to malignant transformation in long-standing disease.
  • [MeSH-major] Disease Susceptibility. Rhabdomyosarcoma, Alveolar / etiology. Spinal Muscular Atrophies of Childhood / complications

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  • (PMID = 15639120.001).
  • [ISSN] 0960-8966
  • [Journal-full-title] Neuromuscular disorders : NMD
  • [ISO-abbreviation] Neuromuscul. Disord.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors; 0 / Transcription Factors
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69. Paulino AC, Pappo A: Alveolar rhabdomyosarcoma of the extremity and nodal metastasis: Is the in-transit lymphatic system at risk? Pediatr Blood Cancer; 2009 Dec 15;53(7):1332-3
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  • [Title] Alveolar rhabdomyosarcoma of the extremity and nodal metastasis: Is the in-transit lymphatic system at risk?
  • Alveolar rhabdomyosarcoma (RMS) of the extremity is not infrequently associated with regional node metastasis.
  • In this report we describe two patients with alveolar RMS of the lower extremity with inguinal metastasis at presentation.
  • The in-transit lymphatics can be a site of failure in children with alveolar RMS of the extremity and nodal involvement.
  • [MeSH-major] Lymphatic Metastasis / physiopathology. Rhabdomyosarcoma, Alveolar / secondary. Soft Tissue Neoplasms / pathology
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Benzenesulfonates / administration & dosage. Camptothecin / administration & dosage. Camptothecin / analogs & derivatives. Child. Combined Modality Therapy. Cyclophosphamide / administration & dosage. Dacarbazine / administration & dosage. Dacarbazine / analogs & derivatives. Dactinomycin / administration & dosage. Etoposide / administration & dosage. Fatal Outcome. Female. Foot. Groin. Humans. Ifosfamide / administration & dosage. Lymph Node Excision. Lymphatic System / anatomy & histology. Male. Niacinamide / analogs & derivatives. Phenylurea Compounds. Pyridines / administration & dosage. Radiotherapy, Adjuvant. Radiotherapy, High-Energy. Salvage Therapy. Thigh. Vincristine / administration & dosage

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  • [Copyright] (c) 2009 Wiley-Liss, Inc.
  • (PMID = 19711439.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Benzenesulfonates; 0 / Phenylurea Compounds; 0 / Pyridines; 1CC1JFE158 / Dactinomycin; 24R60NVC41 / cositecan; 25X51I8RD4 / Niacinamide; 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 7673326042 / irinotecan; 7GR28W0FJI / Dacarbazine; 85622-93-1 / temozolomide; 8N3DW7272P / Cyclophosphamide; 9ZOQ3TZI87 / sorafenib; UM20QQM95Y / Ifosfamide; XT3Z54Z28A / Camptothecin
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70. Das K, Mirani N, Hameed M, Pliner L, Aisner SC: Fine-needle aspiration cytology of alveolar rhabdomyosarcoma utilizing ThinPrep liquid-based sample and cytospin preparations: a case confirmed by FKHR break apart rearrangement by FISH probe. Diagn Cytopathol; 2006 Oct;34(10):704-6
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  • [Title] Fine-needle aspiration cytology of alveolar rhabdomyosarcoma utilizing ThinPrep liquid-based sample and cytospin preparations: a case confirmed by FKHR break apart rearrangement by FISH probe.
  • Rhabdomyosarcoma is the most common childhood sarcoma that occurs in the soft tissues of the head and neck, genitourinary system, and extremities.
  • While this tumor may also be seen in young adults, it is distinctly unusual to see this neoplasm beyond the fifth decade.
  • Herein we present a case of metastatic alveolar rhabdomyosarcoma originating in the nasal sinus and recurring in the neck of an adult man 5 yr after his initial presentation.
  • The ThinPrep smear demonstrated isolated malignant tumor cells similar to his previous histologic material.
  • The cytologic findings of alveolar rhabdomyosarcoma were confirmed utilizing a dual color break apart FISH probe which identified the FKHR translocation on the cytospin preparation prepared from a ThinPrep vial and processed as a cytospin preparation.
  • [MeSH-major] Forkhead Transcription Factors / genetics. Head and Neck Neoplasms / diagnosis. Head and Neck Neoplasms / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics. Translocation, Genetic / genetics
  • [MeSH-minor] Biopsy, Fine-Needle / methods. Chromosomes, Human, Pair 13 / genetics. Cytodiagnosis / methods. DNA, Neoplasm / genetics. Gene Expression Regulation, Neoplastic / genetics. Gene Rearrangement / genetics. Humans. In Situ Hybridization, Fluorescence / methods. Male. Middle Aged

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  • (PMID = 16955479.001).
  • [ISSN] 8755-1039
  • [Journal-full-title] Diagnostic cytopathology
  • [ISO-abbreviation] Diagn. Cytopathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors
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71. Seiz M, Radek M, Buslei R, Kreutzer J, Hofmann B, Kottler U, Doerfler A, Nimsky C, Fahlbusch R: Alveolar rhabdomyosarcoma of the clivus with intrasellar expansion: Case report. Zentralbl Neurochir; 2006 Nov;67(4):219-22
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  • [Title] Alveolar rhabdomyosarcoma of the clivus with intrasellar expansion: Case report.
  • Rhabdomyosarcomas are common tumors of the head and neck region in children.
  • Transsphenoidal biopsy was performed and histopathological examination as well as molecular diagnostics confirmed the diagnosis of an alveolar rhabdomyosarcoma (ARMS).
  • Staging identified a metastatic lesion in the fourth thoracic vertebra resulting in the diagnosis of stage IV disease.
  • [MeSH-major] Pituitary Neoplasms / surgery. Rhabdomyosarcoma / surgery

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  • (PMID = 17139605.001).
  • [ISSN] 0044-4251
  • [Journal-full-title] Zentralblatt für Neurochirurgie
  • [ISO-abbreviation] Zentralbl. Neurochir.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Antineoplastic Agents, Phytogenic; 12629-01-5 / Human Growth Hormone; 6PLQ3CP4P3 / Etoposide; 9002-60-2 / Adrenocorticotropic Hormone; BG3F62OND5 / Carboplatin
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72. Fulciniti F, Botti G, De Chiara A, Parlato V, Russo S, Vosa L, Nappi MM: Fine needle aspiration cytolog of perineal alveolar rhabdomyosarcoma: cytohistopathologic and immunocytochemical correlations. Acta Cytol; 2007 May-Jun;51(3):385-9
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  • [Title] Fine needle aspiration cytolog of perineal alveolar rhabdomyosarcoma: cytohistopathologic and immunocytochemical correlations.
  • OBJECTIVE: To describe the cytopathologic findings in a case of alveolar rhabdomyosarcoma (ARMS) of the perineum in a 13-year-old girl and to compare the cytopathologic findings with the histopathologic and immunohistochemical features observed on the corresponding fragments obtained from core biopsy of the mass.
  • RESULTS: Following a prospective cytopathologic diagnosis of ARMS, a cutting needle core biopsy was performed.
  • Histopathologic and immunohistochemical study of the tissue fragments confirmed the cytopathologic diagnosis.
  • CONCLUSION: Careful cytopathologic evaluation of optimal cell samples from ARMS may elicit a correct diagnosis provided that immunocytochemical staining for markers of myogenic differentiation is performed in a pretherapeutic phase.
  • [MeSH-major] Perineum / pathology. Rhabdomyosarcoma, Alveolar / pathology. Vulva / pathology. Vulvar Neoplasms / pathology

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  • (PMID = 17536540.001).
  • [ISSN] 0001-5547
  • [Journal-full-title] Acta cytologica
  • [ISO-abbreviation] Acta Cytol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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73. Sims TL, McGee M, Williams RF, Myers AL, Tracey L, Hamner JB, Ng C, Wu J, Gaber MW, McCarville B, Nathwani AC, Davidoff AM: IFN-beta restricts tumor growth and sensitizes alveolar rhabdomyosarcoma to ionizing radiation. Mol Cancer Ther; 2010 Mar;9(3):761-71
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  • [Title] IFN-beta restricts tumor growth and sensitizes alveolar rhabdomyosarcoma to ionizing radiation.
  • Ionizing radiation is an important component of multimodal therapy for alveolar rhabdomyosarcoma (ARMS).
  • Rh-30 and Rh-41 ARMS cells were treated with IFN-beta and ionizing radiation to assess synergistic effects in vitro and as orthotopic xenografts in CB17 severe combined immunodeficient mice.
  • In vivo continuous delivery of IFN-beta affected normalization of the dysfunctional tumor vasculature of both Rh-30 and Rh-41 ARMS xenografts, decreasing tumor interstitial fluid pressure, increasing tumor perfusion (as assessed by contrast-enhanced ultrasonography), and increasing oxygenation.
  • The combination of IFN-beta and ionizing radiation showed synergy against ARMS by sensitizing tumor cells to the cytotoxic effects of ionizing radiation and by altering tumor vasculature, thereby improving oxygenation.
  • Therefore, IFN-beta and ionizing radiation may be an effective combination for treatment of ARMS.
  • [MeSH-major] Cell Proliferation / drug effects. Interferon-beta / pharmacology. Radiation Tolerance / drug effects. Rhabdomyosarcoma, Alveolar / radiotherapy. Tumor Burden / drug effects

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  • (PMID = 20197402.001).
  • [ISSN] 1538-8514
  • [Journal-full-title] Molecular cancer therapeutics
  • [ISO-abbreviation] Mol. Cancer Ther.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Radiation-Sensitizing Agents; 0 / Recombinant Proteins; 77238-31-4 / Interferon-beta
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74. Machleder DJ, Banik R, Rosenberg RB, Parikh SR: An unusual case of rhabdomyosarcoma presenting as orbital apex syndrome. Int J Pediatr Otorhinolaryngol; 2005 Feb;69(2):249-54
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  • [Title] An unusual case of rhabdomyosarcoma presenting as orbital apex syndrome.
  • PRECIS: A 12-year-old female presented with symptoms and signs of orbital apex syndrome (OAS), secondary to stage IV alveolar rhabdomyosarcoma (RMS) originating in the sphenoid and ethmoid sinuses.
  • OBJECTIVE: To present a case of alveolar rhabdomyosarcoma, unusual in its presentation as orbital apex syndrome and also its origin from the sphenoid and ethmoid sinuses.
  • Emergent biopsy was interpreted as alveolar rhabdomyosarcoma; subsequent metastatic work-up revealed bone marrow metastases.
  • The patient was diagnosed with stage IV alveolar rhabdomyosarcoma and immediately started on combination orbital radiation therapy (RT) and systemic chemotherapy.
  • CONCLUSION: Alveolar rhabdomyosarcoma of paranasal origin, specifically from the sphenoid and ethmoid sinuses, should be included in the differential diagnosis for orbital apex syndrome in children.
  • [MeSH-major] Orbital Neoplasms / diagnosis. Orbital Neoplasms / secondary. Paranasal Sinus Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis

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  • (PMID = 15656960.001).
  • [ISSN] 0165-5876
  • [Journal-full-title] International journal of pediatric otorhinolaryngology
  • [ISO-abbreviation] Int. J. Pediatr. Otorhinolaryngol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Ireland
  • [Number-of-references] 22
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75. Ben Arush MW, Bar Shalom R, Postovsky S, Militianu D, Haimi M, Zaidman I, Israel O: Assessing the use of FDG-PET in the detection of regional and metastatic nodes in alveolar rhabdomyosarcoma of extremities. J Pediatr Hematol Oncol; 2006 Jul;28(7):440-5
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  • [Title] Assessing the use of FDG-PET in the detection of regional and metastatic nodes in alveolar rhabdomyosarcoma of extremities.
  • Alveolar rhabdomyosarcoma (ARS) accounts for 20% to 30% of childhood rhabdomyosarcoma and is known to have a worse prognosis than embryonal rhabdomyosarcoma.
  • Metastatic disease is more frequent in patients with alveolar tumors and these children with metastatic disease fare poorly, with a 5-year survival between 20% and 30%.
  • Therefore, ARS represents a significant diagnostic and therapeutic challenge that requires techniques to provide better assessment of the disease than provided by traditional means.
  • F18 fluorodeoxyglucose-positron emission tomography (FDG-PET) depicts the increased metabolism in abnormal tissues, enabling accurate evaluation of suspicious regional and metastatic disease.
  • The new combined PET/CT systems can further improve PET interpretation and affect patient management.
  • All the 3 patients we present had focally increased tracer uptake in nodal stations on a pretherapy PET performed at diagnosis.
  • Metastatic axillary disease was possibly also present in the third patient according to his later course of disease.
  • [MeSH-major] Extremities / pathology. Fluorodeoxyglucose F18. Lymphoma, Non-Hodgkin / diagnosis. Positron-Emission Tomography / methods. Rhabdomyosarcoma, Alveolar / diagnosis. Soft Tissue Neoplasms / diagnosis

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  • (PMID = 16825990.001).
  • [ISSN] 1077-4114
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0Z5B2CJX4D / Fluorodeoxyglucose F18
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76. Aslam MB, Sahasrabudhe N, Kumar SN, Shenjere P, Belloso A, Morar P: Solid variant of alveolar rhabdomyosarcoma in the head and neck region: a case report of a diagnostic dilemma in a head and neck fine needle aspiration clinic. Acta Cytol; 2010 Sep-Oct;54(5 Suppl):849-52
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  • [Title] Solid variant of alveolar rhabdomyosarcoma in the head and neck region: a case report of a diagnostic dilemma in a head and neck fine needle aspiration clinic.
  • BACKGROUND: Alveolar rhabdomyosarcoma (ARMS) is one of the major categories of rhabdomyosarcomas; it encompasses malignant tumors of striated muscle and occurs more frequently in the extremities.
  • The diagnosis of an undifferentiated malignant small round cell tumor was made from cytologic examination of the aspirated sample, and biopsy of the lesion was advised.
  • On histologic analysis, diagnosis of solid variant of ARMS was made.
  • CONCLUSION: A solid variant of ARMS in an older population has not been published in the literature within the settings of a rapid head and neck clinic.
  • Therefore, the remote possibility of this diagnosis should be considered in the differential diagnosis of a malignant, round cell tumor in fine needle aspiration cytology in an older patient's neck lump.
  • [MeSH-major] Head / pathology. Head and Neck Neoplasms / diagnosis. Head and Neck Neoplasms / pathology. Neck / pathology. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Biopsy, Fine-Needle. Cell Nucleus / pathology. Diagnosis, Differential. Humans. Immunohistochemistry. Male. Middle Aged. Staining and Labeling

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  • (PMID = 21053554.001).
  • [ISSN] 0001-5547
  • [Journal-full-title] Acta cytologica
  • [ISO-abbreviation] Acta Cytol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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77. Scuoppo C, Riess I, Schmitt-Ney M, Allegra P, Forni PE, Bersani F, Taulli R, Accornero P, Crepaldi T, Ponzetto C: The oncogenic transcription factor PAX3-FKHR can convert fibroblasts into contractile myotubes. Exp Cell Res; 2007 Jul 1;313(11):2308-17
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  • PAX3-FKHR, the product of a rearrangement of PAX3 with FKHR is the pathogenetic marker for alveolar rhabdomyosarcoma, an aggressive form of childhood cancer.
  • This work highlights the potential of PAX3-FKHR to functionally operate as a deregulated Pangene and may have implications with regard to the identity of the precursor cell giving rise to alveolar rhabdomyosarcoma.

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  • (PMID = 17490646.001).
  • [ISSN] 0014-4827
  • [Journal-full-title] Experimental cell research
  • [ISO-abbreviation] Exp. Cell Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / PAX3-FOXO1A fusion protein, human; 0 / Paired Box Transcription Factors
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78. Verkarre V, Galmiche-Rolland L, Sarnacki S, Jaubert F: Rhabdomyosarcoma an ubiquitous pediatric tumour. Arkh Patol; 2008 May-Jun;70(3):50-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rhabdomyosarcoma an ubiquitous pediatric tumour.
  • Rhabdomyosarcoma is the most common soft tissue tumor in children.
  • It occurs everywhere and its prognosis depends on the location and its histological type--embryonic or alveolar.
  • The new immunohistochemical markers desmin and myogenin in combination with molecular biological detection of specific translocations in alveolar rhabdomyosarcoma improved diagnostic capacities.
  • [MeSH-major] Rhabdomyosarcoma

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  • (PMID = 18727437.001).
  • [ISSN] 0004-1955
  • [Journal-full-title] Arkhiv patologii
  • [ISO-abbreviation] Arkh. Patol.
  • [Language] eng
  • [Publication-type] Lectures
  • [Publication-country] Russia (Federation)
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79. Kozakiewicz J, Gierlotka A, Dec M, Rolski J, Zuchowska-Vogelgesang B, Stockfish J: [The case of giant rhabdomyosarcoma of the head and neck and meagre symptomatology]. Otolaryngol Pol; 2010 Sep-Oct;64(5):328-30

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [The case of giant rhabdomyosarcoma of the head and neck and meagre symptomatology].
  • Histopathological examination revealed alveolar rhabdomyosarcoma.
  • [MeSH-major] Head / radiography. Neck / radiography. Parotid Neoplasms / radiography. Parotid Neoplasms / therapy. Rhabdomyosarcoma, Alveolar / radiography. Rhabdomyosarcoma, Alveolar / therapy

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  • (PMID = 21166146.001).
  • [ISSN] 0030-6657
  • [Journal-full-title] Otolaryngologia polska = The Polish otolaryngology
  • [ISO-abbreviation] Otolaryngol Pol
  • [Language] pol
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Poland
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80. Tanyous GH: Rhabdomyosarcoma of the nasal vestibule in a child. Sultan Qaboos Univ Med J; 2006 Dec;6(2):87-9

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  • [Title] Rhabdomyosarcoma of the nasal vestibule in a child.
  • A case of rhabdomyosarcoma in a 2 year old girl without a pre-existing predisposing factor visited the ENT Department of Sultan Qaboos University Hospital (SQUH).
  • Her clinical condition did not point to the diagnosis, which came as a histological surprise.
  • The histopathology report was alveolar rhabdomyosarcoma.

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  • [Cites] Am J Otolaryngol. 2003 May-Jun;24(3):174-80 [12761705.001]
  • [Cites] Med Pediatr Oncol. 1991;19(2):110-4 [2011095.001]
  • [Cites] Cancer. 1993 Mar 1;71(5):1904-22 [8448756.001]
  • (PMID = 21748141.001).
  • [ISSN] 2075-051X
  • [Journal-full-title] Sultan Qaboos University medical journal
  • [ISO-abbreviation] Sultan Qaboos Univ Med J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Oman
  • [Other-IDs] NLM/ PMC3074915
  • [Keywords] NOTNLM ; Case Report / Nasal rhabdomyosarcoma / Oman / pediatric age
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81. Case AS, Kirby TO, Conner MG, Huh WK: A case report of rhabdomyosarcoma of the uterus associated with uterine inversion. Gynecol Oncol; 2005 Mar;96(3):850-3
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  • [Title] A case report of rhabdomyosarcoma of the uterus associated with uterine inversion.
  • BACKGROUND: Alveolar rhabdomyosarcoma is an uncommon malignant soft tissue tumor rarely found in the genital tract.
  • On exam, a large pedunculated mass protruding from the cervix was seen and biopsy of this mass revealed an alveolar rhabdomyosarcoma.
  • The patient was treated with adjuvant chemotherapy consisting of VAC (Vincristine, Actinomycin, and Cyclophosphamide) for a presumed cervical rhabdomyosarcoma.
  • Final pathology showed alveolar rhabdomyosarcoma of the uterus.
  • The patient then received additional postoperative VAC regimen for a total of 10 treatments and remains in good health with no evidence of disease 20 months from diagnosis.
  • CONCLUSION: This case report describes the only reported case of uterine inversion secondary to alveolar rhabdomyosarcoma of the uterus and discusses current therapeutic options for adults.
  • [MeSH-major] Rhabdomyosarcoma, Alveolar / complications. Uterine Inversion / etiology. Uterine Neoplasms / complications

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  • (PMID = 15721436.001).
  • [ISSN] 0090-8258
  • [Journal-full-title] Gynecologic oncology
  • [ISO-abbreviation] Gynecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 1CC1JFE158 / Dactinomycin; 5J49Q6B70F / Vincristine; 8N3DW7272P / Cyclophosphamide; VAC protocol
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82. Fisher C: Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations. Virchows Arch; 2010 Feb;456(2):153-66
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  • These include synovial sarcoma, alveolar rhabdomyosarcoma, alveolar soft part sarcoma, dermatofibrosarcoma protuberans, low-grade fibromyxoid sarcoma, infantile fibrosarcoma and inflammatory myofibroblastic tumour.

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  • (PMID = 19396640.001).
  • [ISSN] 1432-2307
  • [Journal-full-title] Virchows Archiv : an international journal of pathology
  • [ISO-abbreviation] Virchows Arch.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 196
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83. Bui Nguyen Binh M, Collin F, Coindre JM: [Soft tissue sarcomas: update on molecular data]. Cancer Radiother; 2006 Feb-Mar;10(1-2):15-21
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  • Soft tissue sarcomas are rare and may be a source of problems for diagnosis and treatment.
  • Detection of these disorders may help in diagnosis and in determining prognosis.
  • Detection of specific translocation is recommended in synovial sarcoma, alveolar rhabdomyosarcoma or PNET diagnosis because of therapeutic consequences; in case of rarer histologic type (low grade fibromyxoid sarcoma, clear cell sarcoma, infantile fibrosarcoma...), it may confirm the diagnosis.
  • In some cases, some translocations have a prognostic value (alveolar rhabdomyosarcoma) whereas it is discussed in others (synovial sarcoma).
  • The techniques used to detect these translocations are very sensitive so it may be used to detect microscopical metastasis (bone marrow metastasis of alveolar rhabdomyosarcoma for example).
  • Detection of MDM2 and CDK4 genes amplifications (FISH or quantitative PCR) may be sometimes useful in well differentiated and dedifferentiated liposarcomas diagnosis.
  • Mutation detection of KIT or PDGFRA may help in GIST diagnosis and type of mutation is predictive of response to treatment.

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  • (PMID = 16442827.001).
  • [ISSN] 1278-3218
  • [Journal-full-title] Cancer radiothérapie : journal de la Société française de radiothérapie oncologique
  • [ISO-abbreviation] Cancer Radiother
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Number-of-references] 35
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84. Ohi S: Characterization, anticancer drug susceptibility and atRA-induced growth inhibition of a novel cell line (HUMEMS) established from pleural effusion of alveolar rhabdomyosarcoma of breast tissue. Hum Cell; 2007 May;20(2):39-51
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  • [Title] Characterization, anticancer drug susceptibility and atRA-induced growth inhibition of a novel cell line (HUMEMS) established from pleural effusion of alveolar rhabdomyosarcoma of breast tissue.
  • We recently established a cell line derived from pleural effusion from a 13-year-old girl with primary alveolar rhabdomyosarcoma (RMS with a chromosomal translocation t[2;13]) in the breast tissue.
  • Cases of primary alveolar RMS swelling in the breast are extremely rare (about 0.2% of all RMSs).
  • Therefore, the HUMEMS cell line is an important material for studying therapeutics for malignant tumors in children.
  • [MeSH-major] Breast Neoplasms / pathology. Cell Line, Tumor. Pleural Effusion, Malignant / pathology. Rhabdomyosarcoma, Alveolar / pathology


85. Ehlers JP, Penne RB, Eagle RC Jr, Carrasco JR: Alveolar rhabdomyosarcoma presenting as an acute orbital mass in the medial rectus muscle. Ophthal Plast Reconstr Surg; 2007 Mar-Apr;23(2):149-51
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  • [Title] Alveolar rhabdomyosarcoma presenting as an acute orbital mass in the medial rectus muscle.
  • Rhabdomyosarcoma is the most common pediatric primary neoplasm in the orbit, often presenting with rapid proptosis and orbital symptoms.
  • We describe a 15-year-old girl who presented with an acute mass in her medial rectus muscle that was subsequently diagnosed as widely disseminated alveolar rhabdomyosarcoma.
  • To our knowledge, this represents the first reported case in which an enlarged extraocular muscle was the initial manifestation of disseminated alveolar rhabdomyosarcoma.
  • [MeSH-major] Oculomotor Muscles / pathology. Orbital Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Acute Disease. Adolescent. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biomarkers, Tumor / analysis. Exophthalmos / diagnosis. Female. Forkhead Transcription Factors / genetics. Humans. In Situ Hybridization, Fluorescence. Magnetic Resonance Imaging. Neoplasm Proteins / analysis. Paired Box Transcription Factors / genetics. Translocation, Genetic

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  • (PMID = 17413634.001).
  • [ISSN] 0740-9303
  • [Journal-full-title] Ophthalmic plastic and reconstructive surgery
  • [ISO-abbreviation] Ophthal Plast Reconstr Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / Neoplasm Proteins; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors
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86. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Takahira T, Takahashi Y, Tajiri T, Taguchi T, Suita S, Tsuneyoshi M: Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. J Cancer Res Clin Oncol; 2008 Oct;134(10):1097-103
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  • [Title] Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype.
  • PURPOSE: Rhabdomyosarcoma (RMS), which is the most common pediatric soft tissue sarcoma, is classified into two major histologic subtypes, embryonal RMS (ERMS) and alveolar RMS (ARMS).
  • RMS is occasionally reported to be the second neoplasm of hereditary retinoblastoma.
  • Osteosarcoma is known as the most common second neoplasm of hereditary retinoblastoma, and tumorigenesis of osteosarcoma has been proven in previous studies to be related to the RB gene (RB1) alteration.
  • RESULTS: Allelic imbalance was more frequently detected in ERMS (13/27), than in ARMS (3/20) (P = 0.04).
  • Homozygous deletion on the protein-binding pocket domain of RB1 was found in 6 of 27 ERMS and in 2 of 20 ARMS (P = 0.24).
  • Furthermore, immunohistochemical pRB labeling indexes (LI) in 31 ERMS (median value, 31%) were significantly reduced in comparison with those observed in 26 ARMS (median value, 85%) (P < 0.0001).
  • In addition, immunohistochemical pRB LI may have the potential to be a useful ancillary tool in the differential diagnosis of RMS subtypes.
  • [MeSH-major] Retinoblastoma Protein / biosynthesis. Retinoblastoma Protein / genetics. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / genetics. Rhabdomyosarcoma, Embryonal / diagnosis. Rhabdomyosarcoma, Embryonal / genetics
  • [MeSH-minor] Base Sequence. Diagnosis, Differential. Gene Expression. Humans. Immunohistochemistry. Mutation. Reverse Transcriptase Polymerase Chain Reaction

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  • (PMID = 18386058.001).
  • [ISSN] 0171-5216
  • [Journal-full-title] Journal of cancer research and clinical oncology
  • [ISO-abbreviation] J. Cancer Res. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
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87. Bois PR, Izeradjene K, Houghton PJ, Cleveland JL, Houghton JA, Grosveld GC: FOXO1a acts as a selective tumor suppressor in alveolar rhabdomyosarcoma. J Cell Biol; 2005 Sep 12;170(6):903-12
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  • [Title] FOXO1a acts as a selective tumor suppressor in alveolar rhabdomyosarcoma.
  • Rhabdomyosarcoma (RMS), the most common pediatric soft-tissue sarcoma, has two major histological subtypes: embryonal RMS (ERMS), which has a favorable prognosis, and alveolar RMS (ARMS), which has a poor outcome.
  • Although both forms of RMS express muscle cell-specific markers, only ARMS cells express PAX3-FOXO1a or PAX7-FOXO1a chimeric proteins.
  • In mice, Pax3 and Pax7 play key roles in muscle cell development and differentiation, and FoxO1a regulates myoblast differentiation and fusion; thus, the aberrant regulation of these proteins may contribute to the development of ARMS.
  • In this paper, we report that FOXO1a is not expressed in primary ARMS tumors or ARMS-derived tumor cell lines and that restoration of FOXO1a expression in ARMS cells is sufficient to induce cell cycle arrest and apoptosis.
  • Furthermore, FOXO1a induced apoptosis in ARMS by directly activating the transcription of caspase-3.
  • We conclude that FOXO1a is a potent and specific tumor suppressor in ARMS, suggesting that agents that restore or augment FOXO1a activity may be effective as ARMS therapeutics.

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  • (PMID = 16157701.001).
  • [ISSN] 0021-9525
  • [Journal-full-title] The Journal of cell biology
  • [ISO-abbreviation] J. Cell Biol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P01 CA071907; United States / NCI NIH HHS / CA / R01 CA087952; United States / NCI NIH HHS / CA / CA 71907; United States / NCI NIH HHS / CA / P01 CA023099; United States / NCI NIH HHS / CA / P30 CA021765; United States / NCI NIH HHS / CA / CA 96696; United States / NCI NIH HHS / CA / CA 87952; United States / NCI NIH HHS / CA / CA 23099; United States / NCI NIH HHS / CA / R01 CA096696; United States / NCI NIH HHS / CA / CA 21765
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Retracted Publication
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Fluorescent Dyes; 0 / Forkhead Transcription Factors; 0 / Indoles; 0 / Recombinant Fusion Proteins; 47165-04-8 / DAPI; EC 1.13.12.- / Luciferases; EC 3.4.22.- / CASP3 protein, human; EC 3.4.22.- / Casp3 protein, mouse; EC 3.4.22.- / Caspase 3; EC 3.4.22.- / Caspases
  • [Other-IDs] NLM/ PMC2171446
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88. Nikas I, Theofanopoulou M, Lampropoulou P, Pourtsidis A, Hadjigeorgi C, Kosmidis H: Optic pathway glioma associated with orbital rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia in a child with neurofibromatosis-1. Pediatr Radiol; 2006 Nov;36(11):1200-3
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  • [Title] Optic pathway glioma associated with orbital rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia in a child with neurofibromatosis-1.
  • Neurofibromatosis-1 (NF-1) is a multisystem disorder presenting with a variety of clinical and imaging manifestations.
  • We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia.
  • [MeSH-major] Dilatation, Pathologic / radiography. Glioma / radiography. Neurofibromatoses / radiography. Optic Nerve Neoplasms / radiography. Orbital Neoplasms / radiography. Rhabdomyosarcoma / radiography


89. Huh WW, Beverly Raney R: Orbital metastasis in patients with rhabdomyosarcoma: case series and review of the literature. J Pediatr Hematol Oncol; 2006 Oct;28(10):684-7

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  • [Title] Orbital metastasis in patients with rhabdomyosarcoma: case series and review of the literature.
  • We present 3 cases of children who developed recurrent rhabdomyosarcoma with metastases to the orbit and review the medical literature.
  • Alveolar rhabdomyosarcoma was diagnosed in 7 cases.
  • All 11 patients had stage 3 or 4 tumors at diagnosis, but none had orbital involvement initially.
  • Ten of the patients died; 7 of them succumbed with progressive disease within 6 months of the orbital recurrence.
  • [MeSH-major] Orbital Neoplasms / secondary. Pelvic Neoplasms / secondary. Rhabdomyosarcoma / secondary
  • [MeSH-minor] Adolescent. Adult. Child, Preschool. Disease Progression. Fatal Outcome. Female. Humans. Recurrence

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  • (PMID = 17023831.001).
  • [ISSN] 1077-4114
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 18
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90. Vanwoerkom RC, Bentz J, Chen L, Adler DG: EUS diagnosis of a primary pancreatic metastasis of alveolar rhabdomyosarcoma. JOP; 2009;10(6):683-5
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  • [Title] EUS diagnosis of a primary pancreatic metastasis of alveolar rhabdomyosarcoma.
  • CONTEXT: Alveolar rhabdomyosarcoma are rare malignancies.
  • Pancreatic metastases from alveolar rhabdomyosarcoma are exceptionally uncommon.
  • CASE REPORT: An 18-year-old man with a history of right orbital alveolar rhabdomyosarcoma, which had been treated with neoadjuvant therapy, surgery and adjuvant chemotherapy developed an episode of pancreatitis.
  • EUS guided FNA confirmed the diagnosis of alveolar rhabdomyosarcoma metastatic to the pancreas.
  • CONCLUSION: To our knowledge this is the first reported case of EUS guided FNA diagnosis of alveolar rhabdomyosarcoma metastatic to the pancreas.
  • [MeSH-major] Head and Neck Neoplasms / secondary. Head and Neck Neoplasms / ultrasonography. Pancreatic Neoplasms / pathology. Pancreatic Neoplasms / ultrasonography. Rhabdomyosarcoma, Alveolar / ultrasonography

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  • (PMID = 19890194.001).
  • [ISSN] 1590-8577
  • [Journal-full-title] JOP : Journal of the pancreas
  • [ISO-abbreviation] JOP
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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91. Nogi H, Kobayashi T, Kawase K, Tabei I, Toriumi Y, Suzuki M, Kawakami M, Morikawa T, Uchida K: Primary rhabdomyosarcoma of the breast in a 13-year-old girl: report of a case. Surg Today; 2007;37(1):38-42
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  • [Title] Primary rhabdomyosarcoma of the breast in a 13-year-old girl: report of a case.
  • We report a case of primary alveolar rhabdomyosarcoma of the breast in a 13-year-old Japanese girl.
  • The patient initially presented with a 13 x 8-cm mass in her left breast, which was diagnosed as alveolar rhabdomyosarcoma after an excisional biopsy.
  • Despite chemotherapy with doxorubicin, ifosfamide, and actinomycin D, which resulted in remission for 6 months, she died of the disease 8 months after surgery.
  • [MeSH-major] Bone Neoplasms / secondary. Breast Neoplasms / pathology. Lung Neoplasms / secondary. Rhabdomyosarcoma, Alveolar / pathology

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  • (PMID = 17186344.001).
  • [ISSN] 0941-1291
  • [Journal-full-title] Surgery today
  • [ISO-abbreviation] Surg. Today
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 1CC1JFE158 / Dactinomycin; 80168379AG / Doxorubicin; UM20QQM95Y / Ifosfamide
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92. Raney RB, Anderson JR, Brown KL, Huh WW, Maurer HM, Meyer WH, Parham DM, Rodeberg DA, Wolden SL, Donaldson SS, Soft-Tissue Sarcoma Committee of the Children's Oncology Group Arcadia California USA: Treatment results for patients with localized, completely resected (Group I) alveolar rhabdomyosarcoma on Intergroup Rhabdomyosarcoma Study Group (IRSG) protocols III and IV, 1984-1997: a report from the Children's Oncology Group. Pediatr Blood Cancer; 2010 Oct;55(4):612-6
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  • [Title] Treatment results for patients with localized, completely resected (Group I) alveolar rhabdomyosarcoma on Intergroup Rhabdomyosarcoma Study Group (IRSG) protocols III and IV, 1984-1997: a report from the Children's Oncology Group.
  • PURPOSE: To assess local control, event-free survival (EFS), and overall survival (OS) rates in 71 patients with localized, completely resected (Group I) alveolar rhabdomyosarcoma (ALV RMS) and their relation to radiation therapy (RT) on IRSG Protocols III and IV, 1984-1997.
  • PATIENTS AND TUMORS: Patients were 1-18 years at diagnosis (median, 6 years).
  • Thirty patients received VA +/- C with RT; 41 received VA +/- C alone.
  • RT was assigned, not randomized.
  • Eight-year EFS was 90%, with 100% local control for 17 patients given RT.
  • Eight-year EFS was 88%, with 92% local control for 37 patients without RT; P = 0.52 for EFS comparisons, 0.3 for local control comparisons.
  • In 17 Stage 3 patients (unfavorable site, tumors >5 cm, N0), 8-year EFS was 84% with 100% local control in 13 patients given RT; 8-year EFS was only 25% and local control 50% in 4 patients without RT.
  • CONCLUSION: Patients with Stage 1-2 ALV RMS had slightly but statistically insignificantly improved local control, EFS, and OS rates when local RT was given.
  • The need for local RT in Stage 1-2 patients deserves evaluation in a randomized study.
  • Local control, EFS, and OS rates were significantly improved in Stage 3 patients receiving local RT.

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  • [Copyright] Copyright 2010 Wiley-Liss, Inc.
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  • (PMID = 20806360.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA-98543; United States / NCI NIH HHS / CA / U10 CA072989; United States / NCI NIH HHS / CA / U10 CA029511; United States / NCI NIH HHS / CA / CA-24507; United States / NCI NIH HHS / CA / CA-72989; United States / NCI NIH HHS / CA / U10 CA098543; United States / NCI NIH HHS / CA / CA-29511; United States / NCI NIH HHS / CA / U10 CA024507
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS263511; NLM/ PMC3128801
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93. Nakagawa N, Tsuda T, Yamamoto M, Ito T, Futani H, Yamanishi K: Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. J Dermatol; 2008 Jul;35(7):462-7
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  • [Title] Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts.
  • The histology was compatible with alveolar rhabdomyosarcoma, but immunohistochemistry showed that the tumor cells were negative for desmin, alpha-smooth muscle actin and alpha-Sr-1, but were positive for CD56, vimentin and myogenin.
  • The diagnosis of alveolar rhabdomyosarcoma was confirmed by the detection of PAX3-FKHR fusion gene transcripts in the paraffin-embedded tumor tissue.
  • The tumor was unresponsive to chemotherapy with pirarubicin, carboplatin and ifosfamide, and the patient died 9 months after the diagnosis.
  • This adult case of an alveolar rhabdomyosarcoma primarily occurring on the face is very rare, and the detection of PAX3-FKHR fusion gene transcripts was useful for diagnosis of the disease.
  • [MeSH-major] Facial Neoplasms / diagnosis. Oncogene Proteins, Fusion / metabolism. Rhabdomyosarcoma, Alveolar / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 18705836.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / PAX3-FKHR fusion protein, human; 0 / RNA, Messenger
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94. McDonald PC, Dedhar S, Keller C: Integrin-linked kinase: both Jekyll and Hyde in rhabdomyosarcoma. J Clin Invest; 2009 Jun;119(6):1452-5
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  • [Title] Integrin-linked kinase: both Jekyll and Hyde in rhabdomyosarcoma.
  • Although the molecular differences between embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS) have been extensively interrogated, effective therapies tailored to a particular rhabdomyosarcoma subtype have yet to emerge.
  • Patients with ERMS have shown incremental improvement using current multimodal therapy, but survival rates for metastatic ARMS remain poor.
  • In this issue of the JCI, Durbin and colleagues demonstrate that integrin-linked kinase (ILK) acts as a tumor suppressor in ERMS and as a proto-oncogene in ARMS, and that the opposing functions of this enzyme are dependent on the JNK1 signaling pathway (see the related article beginning on page 1558).
  • Their findings suggest that targeting ILK may represent a focused therapeutic strategy for the treatment of ARMS.
  • [MeSH-major] Protein-Serine-Threonine Kinases / metabolism. Rhabdomyosarcoma / enzymology

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  • (PMID = 19504719.001).
  • [ISSN] 1558-8238
  • [Journal-full-title] The Journal of clinical investigation
  • [ISO-abbreviation] J. Clin. Invest.
  • [Language] eng
  • [Publication-type] Comment; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins; 0 / Tumor Suppressor Proteins; EC 2.7.1.- / integrin-linked kinase; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 2.7.11.24 / Mitogen-Activated Protein Kinase 8
  • [Other-IDs] NLM/ PMC2689131
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95. Houreih MA, Lin AY, Eyden B, Menasce LP, Harrison J, Jones D, Folberg R, Chejfec G, Banerjee SS: Alveolar rhabdomyosarcoma with neuroendocrine/neuronal differentiation: report of 3 cases. Int J Surg Pathol; 2009 Apr;17(2):135-41
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  • [Title] Alveolar rhabdomyosarcoma with neuroendocrine/neuronal differentiation: report of 3 cases.
  • The aim of this study is to report the clinicopathologic characteristics of 3 cases of alveolar rhabdomyosarcoma with neuroendocrine/neuronal differentiation.
  • Specimens of 3 cases of alveolar rhabdomyosarcoma were studied using histologic, immunohistochemical, ultrastructural, and molecular genetic techniques.
  • The patients were a 19-year-old man with metastatic alveolar rhabdomyosarcoma in a groin lymph node, a 16-year-old girl with alveolar rhabdomyosarcoma of the perineum, and a 20-year-old man with recurrent orbital alveolar rhabdomyosarcoma.
  • Cases 1 and 3 were solid throughout, whereas case 2 demonstrated alveolar and solid architecture.
  • The data presented expands the known differentiation of alveolar rhabdomyosarcoma.
  • [MeSH-major] Cell Differentiation. Genital Neoplasms, Female / pathology. Lymphoma / pathology. Neuroendocrine Cells / pathology. Neurons / pathology. Orbital Neoplasms / pathology. Rhabdomyosarcoma, Alveolar / pathology

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  • (PMID = 18611935.001).
  • [ISSN] 1066-8969
  • [Journal-full-title] International journal of surgical pathology
  • [ISO-abbreviation] Int. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromogranins; 0 / Desmin; 0 / Myogenin; 0 / Synaptophysin
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96. Cen L, Arnoczky KJ, Hsieh FC, Lin HJ, Qualman SJ, Yu S, Xiang H, Lin J: Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma. Mod Pathol; 2007 Sep;20(9):936-46
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  • [Title] Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma.
  • Rhabdomyosarcoma is the most common pediatric soft-tissue sarcoma, which includes two major subtypes, alveolar and embryonal rhabdomyosarcoma.
  • However, the oncogenic process of rhabdomyosarcoma involves multi-stages of signaling protein dysregulation characterized by prolonged activation of tyrosine and serine/threonine kinases.
  • To better understand this protein dysregulation, we evaluated the phosphorylation profiles of multiple tyrosine and serine/threonine kinases to identify whether these protein kinases are activated in rhabdomyosarcoma.
  • We applied immunohistochemistry with phospho-specific antibodies to examine phosphorylation levels of selected receptor and non-receptor tyrosine kinases, mammalian target of rapamycin (mTOR), p70S6K, and protein kinase C (PKC) isozymes on alveolar and embryonal rhabdomyosarcoma tissue microarray slides.
  • Our results showed that the phosphorylation levels of these kinases are elevated in some rhabdomyosarcoma tissues compared to normal tissues.
  • Phosphorylation levels of receptor and non-receptor tyrosine kinases are elevated between 26 and 68% in alveolar rhabdomyosarcoma and between 24 and 71% in embryonal rhabdomyosarcoma, respectively, compared to normal tissues.
  • In addition, phosphorylation levels of mTOR and its downstream targets, p70S6K, S6, and 4EBP1, are increased between 50 and 72% in both subtypes of rhabdomyosarcoma.
  • Further, phosphorylation levels of PKCalpha, PKCdelta, PKCtheta, and PKCzeta/lambda are upregulated between 57 and 69% in alveolar rhabdomyosarcoma and between 43 and 72% in embryonal rhabdomyosarcoma.
  • This is the first report to create a phosphorylation profile of tyrosine and serine/threonine kinases involved in the mTOR and PKC pathways of alveolar and embryonal rhabdomyosarcoma.
  • These protein kinases may play roles in the development or tumor progression of rhabdomyosarcomas and thus may serve as novel targets for therapeutic intervention.
  • [MeSH-major] Protein-Serine-Threonine Kinases / analysis. Protein-Tyrosine Kinases / analysis. Rhabdomyosarcoma, Alveolar / enzymology. Rhabdomyosarcoma, Embryonal / enzymology
  • [MeSH-minor] Adaptor Proteins, Signal Transducing / analysis. Adolescent. Child. Child, Preschool. Female. Humans. Immunohistochemistry. Infant. Infant, Newborn. Isoenzymes / analysis. Male. Neoplasm Staging. Phosphoproteins / analysis. Phosphorylation. Pilot Projects. Protein Kinase C / analysis. Protein Kinases / analysis. Receptor Protein-Tyrosine Kinases / analysis. Ribosomal Protein S6 / analysis. Ribosomal Protein S6 Kinases, 70-kDa / analysis. TOR Serine-Threonine Kinases. Tissue Array Analysis

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  • (PMID = 17585318.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / EIF4EBP1 protein, human; 0 / Isoenzymes; 0 / Phosphoproteins; 0 / Ribosomal Protein S6; EC 2.7.- / Protein Kinases; EC 2.7.1.1 / MTOR protein, human; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.1 / Receptor Protein-Tyrosine Kinases; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 2.7.11.1 / Ribosomal Protein S6 Kinases, 70-kDa; EC 2.7.11.13 / Protein Kinase C
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97. Cil T, Altintas A, Isikdogan A: Rhabdomyosarcoma presenting with destructive large lesion of the face. South Med J; 2008 Jan;101(1):104-5
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  • [Title] Rhabdomyosarcoma presenting with destructive large lesion of the face.
  • Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents.
  • Alveolar histologic type is more aggressive than the other types and is seen in most patients with locally advanced and metastatic disease.
  • She was diagnosed with alveolar rhabdomyosarcoma on histopathological examination.
  • [MeSH-major] Facial Neoplasms / diagnosis. Rhabdomyosarcoma, Alveolar / diagnosis. Sarcoma / diagnosis

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  • (PMID = 18176304.001).
  • [ISSN] 1541-8243
  • [Journal-full-title] Southern medical journal
  • [ISO-abbreviation] South. Med. J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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98. Srinivas U, Pillai L, Kar R, Mahapatra M, Gujra S, Pati HP: A case of rhabdomyosarcoma masquerading as acute leukemia at presentation: a case report. Indian J Pathol Microbiol; 2007 Oct;50(4):917-9
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  • [Title] A case of rhabdomyosarcoma masquerading as acute leukemia at presentation: a case report.
  • Non-hematopoietic malignancies infiltrating bone marrow have always been a source of erroneous diagnosis.
  • Among these, the small round cell tumors like neuroblastomas and rhabdomyosarcomas mimick the hematopoietic blasts.
  • Several case reports of rhabdomyosarcoma mimicking acute leukemia, clinically and morphologically at presentation have been reported in the literature.
  • We report here one such case of alveolar rhabdomyosarcoma masquerading as acute leukemia.
  • [MeSH-major] Bone Marrow / pathology. Rhabdomyosarcoma, Alveolar / diagnosis. Rhabdomyosarcoma, Alveolar / pathology
  • [MeSH-minor] Adolescent. Antigens, CD30 / analysis. Antigens, CD45 / analysis. Biomarkers, Tumor / analysis. Desmin / analysis. Diagnosis, Differential. Humans. Immunohistochemistry. Male. MyoD Protein / analysis. Myogenin / analysis. Peroxidase / analysis. Phosphopyruvate Hydratase / analysis

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  • (PMID = 18306605.001).
  • [ISSN] 0377-4929
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
  • [Chemical-registry-number] 0 / Antigens, CD30; 0 / Biomarkers, Tumor; 0 / Desmin; 0 / MyoD Protein; 0 / MyoD1 myogenic differentiation protein; 0 / Myogenin; EC 1.11.1.7 / Peroxidase; EC 3.1.3.48 / Antigens, CD45; EC 4.2.1.11 / Phosphopyruvate Hydratase
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99. Roeb W, Boyer A, Cavenee WK, Arden KC: Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor. Cell Cycle; 2008 Apr 1;7(7):837-41
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  • The t(2;13) translocation is characteristic of the pediatric muscle tumor, alveolar rhabdomyosarcoma, and produces the chimeric transcription factor, PAX3-FOXO1, that contains the DNA binding elements of PAX3 and the transcriptional activation domain of FOXO1.
  • [MeSH-major] Cell Differentiation / physiology. Early Growth Response Protein 1 / metabolism. Forkhead Transcription Factors / metabolism. Gene Expression Regulation, Neoplastic / physiology. Paired Box Transcription Factors / metabolism. Rhabdomyosarcoma, Alveolar / metabolism

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  • [ErratumIn] Cell Cycle. 2008 Oct;7(19):3106
  • (PMID = 18414034.001).
  • [ISSN] 1551-4005
  • [Journal-full-title] Cell cycle (Georgetown, Tex.)
  • [ISO-abbreviation] Cell Cycle
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Early Growth Response Protein 1; 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors
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100. Ebauer M, Wachtel M, Niggli FK, Schäfer BW: Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR. Oncogene; 2007 Nov 8;26(51):7267-81
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  • The chromosomal translocation t(2;13), characteristic for the aggressive childhood cancer alveolar rhabdomyosarcoma (aRMS), generates the chimeric transcription factor PAX3/FKHR with a well known oncogenic role.
  • We also found repression of skeletal muscle-specific genes suggesting that PAX3/FKHR blocks further differentiation of aRMS cells.
  • Hence, we developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development.

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  • (PMID = 17525748.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / FOXO1 protein, human; 0 / Forkhead Transcription Factors; 0 / PAX3 protein, human; 0 / Paired Box Transcription Factors; 0 / TFAP2B protein, human; 0 / Transcription Factor AP-2
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