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1. Palmer SR, Tefferi A, Hanson CA, Steensma DP: Platelet count is an IPSS-independent risk factor predicting survival in refractory anaemia with ringed sideroblasts. Br J Haematol; 2008 Mar;140(6):722-5
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  • [Title] Platelet count is an IPSS-independent risk factor predicting survival in refractory anaemia with ringed sideroblasts.
  • [MeSH-major] Anemia, Sideroblastic / blood. Platelet Count

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  • (PMID = 18241255.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Evaluation Studies; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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2. Kokhno AV, Parovichnikova EN, Mikhaĭlova EA, Ustinova EN, Kaplanskaia IB, Dvirnyk VN, Ol'shanskaia IuV, Domracheva EV, Savchenko VG: [Efficiency of cyclosporin A therapy in patients with myelodysplastic syndrome]. Ter Arkh; 2010;82(8):48-53
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  • Baseline refractory anemia (RA) transformed to RA with excess blasts (RAEB) in 31% of cases; baseline RAEB did to acute myeloid leukemia in 34%.
  • CONCLUSION: CsA is the drug of choice in treating patients with MDS, including RA, RA with ringed sideroblasts, refractory cytopenia with multilineage dysplasia, with hypoplasia of hematopoiesis, with nodular polyclonal lymphoid infiltration in the BM, a normal karyotype or changes corresponding to a low or moderate IPSS risk.


3. Ziarkiewicz M, Dwilewicz-Trojaczek J, Pastwińska A, Chmarzyńska E, Paszkowska-Kowalewska M, Koperski Ł, Jędrzejczak WW, Ziarkiewicz-Wróblewska B: Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with superimposed 5q-syndrome. Pol J Pathol; 2010;61(2):105-9
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  • [Title] Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with superimposed 5q-syndrome.
  • Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) is a rare entity belonging to myeloproliferative/myelodysplastic syndromes.
  • Herein we describe a 69-year-old male with anaemia and thrombocytosis presenting with coexisting features of both these rare diseases.
  • [MeSH-major] Anemia, Refractory / pathology. Anemia, Sideroblastic / pathology. Thrombocytosis / pathology
  • [MeSH-minor] Aged. Anemia, Macrocytic / drug therapy. Anemia, Macrocytic / genetics. Anemia, Macrocytic / pathology. Antineoplastic Agents / therapeutic use. Bone Marrow Cells / pathology. Chromosome Deletion. Chromosomes, Human, Pair 5 / genetics. Drug Therapy, Combination. Humans. Hydroxyurea / therapeutic use. In Situ Hybridization, Fluorescence. Male. Thalidomide / analogs & derivatives. Thalidomide / therapeutic use

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  • (PMID = 20924996.001).
  • [ISSN] 1233-9687
  • [Journal-full-title] Polish journal of pathology : official journal of the Polish Society of Pathologists
  • [ISO-abbreviation] Pol J Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Poland
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 4Z8R6ORS6L / Thalidomide; F0P408N6V4 / lenalidomide; X6Q56QN5QC / Hydroxyurea; Chromosome 5q Deletion Syndrome
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4. Wang R, Gross CP, Halene S, Ma X: Neighborhood socioeconomic status influences the survival of elderly patients with myelodysplastic syndromes in the United States. Cancer Causes Control; 2009 Oct;20(8):1369-76
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  • The impact of SES on survival was more apparent for patients with refractory anemia with ringed sideroblasts-patients residing in medium (HR = 1.85, 95% CI: 1.17-2.91) and low (HR = 2.06, 95% CI: 1.27-3.37) census tracts had a nearly two-fold increased the risk of mortality, compared with those living in high-SES census tracts.

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  • (PMID = 19455395.001).
  • [ISSN] 1573-7225
  • [Journal-full-title] Cancer causes & control : CCC
  • [ISO-abbreviation] Cancer Causes Control
  • [Language] ENG
  • [Grant] United States / NIA NIH HHS / AG / 1 K08 AG24842; United States / NCI NIH HHS / CA / CA119108-03; United States / NIA NIH HHS / AG / K08 AG024842; United States / NCI NIH HHS / CA / K07 CA119108-03; United States / NCI NIH HHS / CA / K07 CA119108
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Netherlands
  • [Other-IDs] NLM/ NIHMS226254; NLM/ PMC2921772
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5. van de Loosdrecht AA, Westers TM, Westra AH, Dräger AM, van der Velden VH, Ossenkoppele GJ: Identification of distinct prognostic subgroups in low- and intermediate-1-risk myelodysplastic syndromes by flow cytometry. Blood; 2008 Feb 1;111(3):1067-77
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  • This also accounted for refractory anemia (RA) with or without ringed sideroblasts (RS), indicating multilineage dysplasia.
  • Flow-scores increased significantly from RA with or without RS, refractory cytopenia with multilineage dysplasia (RCMD) with or without RS up to refractory anemia with excess of blasts-1 (RAEB-1) and RAEB-2.


6. Grinblatt DL, Yu D, Hars V, Vardiman JW, Powell BL, Nattam S, Silverman LR, de Castro C 3rd, Stone RM, Bloomfield CD, Larson RA, Cancer and Leukemia Group: Treatment of myelodysplastic syndrome with 2 schedules and doses of oral topotecan: a randomized phase 2 trial by the Cancer and Leukemia Group B (CALGB 19803). Cancer; 2009 Jan 1;115(1):84-93
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  • Patients with refractory anemia (RA), RA with ringed sideroblasts, or refractory cytopenia with multilineage dysplasia (RCMD) were eligible only if they were dependent on erythrocyte transfusion, had a platelet count<50,000/microL, or had an absolute neutrophil count<1000/microL with a recent infection that required antibiotics.

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  • [Copyright] Copyright (c) 2008 American Cancer Society.
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  • (PMID = 19025972.001).
  • [ISSN] 0008-543X
  • [Journal-full-title] Cancer
  • [ISO-abbreviation] Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / U10 CA047577; United States / NCI NIH HHS / CA / U10 CA032291; United States / NCI NIH HHS / CA / CA33601; United States / NCI NIH HHS / CA / CA04457; United States / NCI NIH HHS / CA / CA11789; United States / NCI NIH HHS / CA / U10 CA077658; United States / NCI NIH HHS / CA / CA02599; United States / NCI NIH HHS / CA / CA47577; United States / NCI NIH HHS / CA / CA47555; United States / NCI NIH HHS / CA / CA35113; United States / NCI NIH HHS / CA / CA32291; United States / NCI NIH HHS / CA / CA29165; United States / NCI NIH HHS / CA / CA41287; United States / NCI NIH HHS / CA / CA03927; United States / NCI NIH HHS / CA / U10 CA031946; United States / NCI NIH HHS / CA / U10 CA033601; United States / NCI NIH HHS / CA / U10 CA031946-25; United States / NCI NIH HHS / CA / CA35199; United States / NCI NIH HHS / CA / CA12046; United States / NCI NIH HHS / CA / CA16450; United States / NCI NIH HHS / CA / CA031946-25; United States / NCI NIH HHS / CA / U10 CA004326; United States / NCI NIH HHS / CA / U10 CA041287; United States / NCI NIH HHS / CA / U10 CA035113; United States / NCI NIH HHS / CA / U10 CA047559; United States / NCI NIH HHS / CA / CA04326; United States / NCI NIH HHS / CA / CA74811; United States / NCI NIH HHS / CA / CA21060; United States / NCI NIH HHS / CA / CA47559; United States / NCI NIH HHS / CA / CA47642; United States / NCI NIH HHS / CA / U10 CA074811; United States / NCI NIH HHS / CA / CA77658; United States / NCI NIH HHS / CA / CA12449; United States / NCI NIH HHS / CA / U10 CA047642; United States / NCI NIH HHS / CA / CA31983; United States / NCI NIH HHS / CA / CA31946; United States / NCI NIH HHS / CA / U10 CA003927; United States / NCI NIH HHS / CA / CA07968
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 7M7YKX2N15 / Topotecan
  • [Other-IDs] NLM/ NIHMS89209; NLM/ PMC2887616
  • [Investigator] Winer EP; Ernstoff MS; Crawford J; Giguere JK; Kugler JW; Grossbard ML; Graziano SL; Bloomfield CD; Mortimer J; Fleming G; Feldman LE; Clamon G; Edelman M; Peterson BA; Perry MC; Shea TC; Niell HB; Hurd DD; Wadler S
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7. Wang XQ, Sino-US Shanghai Leukemia Cooperative Group: [WHO classification and cytogenetic analysis of 435 cases with myelodysplastic syndrome]. Zhonghua Nei Ke Za Zhi; 2008 Jun;47(6):464-7
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  • The proportion of cases with refractory cytopenia with multilineage dysplasia (RCMD) was highest ,accounting for 69.6% (303/435).
  • Other subtypes were refractory anemia with excess blasts (RAEB) 24.1% (105/435), refractory anemia (RA) 2.3% (10/435), myelodysplastic syndrome, unclassifiable (MDS-U) 2.3% (10/435), refractory anemia with ringed sideroblasts (RAS) 1.2% (5/435) and 5q-syndrome 0.5% (2/435) in turn.
  • In the remaining 424 cases with success the frequency of chromosome abnormality was 38.7%, with the highest in RAEB- I (62.5%), and then RAEB-II (48.4%) and RCMD (34.5%) in turn.
  • However, the detection sensitivity of abnormality with FISH may sometimes be high.
  • CONCLUSIONS: The WHO subtype and chromosome abnormality distributions of MDS in Shanghai were different from those in western countries.


8. Warlick ED, Cioc A, Defor T, Dolan M, Weisdorf D: Allogeneic stem cell transplantation for adults with myelodysplastic syndromes: importance of pretransplant disease burden. Biol Blood Marrow Transplant; 2009 Jan;15(1):30-8
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  • By WHO criteria 35 (42%) had refractory anemia with excess blasts (RAEB-1 or 2), 23 (27%) had refractory cytopenia with multilineage dysplasia (RCMD) or RCMD and ringed sideroblasts (RCMD-RS), and the remaining 26 (31%) had refractory anemia (RA), myelodysplastic syndrome-unclassifiable (MDS-U), chronic myelomonocytic leukemia (CMML), myelodysplastic/myeloproliferative disease (MDS/MPD), or myelodysplastic syndrome-not otherwise specified (MDS-NOS).


9. León-Rodríguez E: [Hematopoietic stem cell transplantation in the myelodisplastic syndromes]. Rev Invest Clin; 2005 Mar-Apr;57(2):283-90
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  • HSCT offers best results in goods prognosis MDS (refractory anemia, refractory anemia with ring sideroblasts) with DFS of 53-72% and 13% of relapse, in contrast with the advanced MDS (refractory anemia with blast in excess (AREB), AREB in transformation and secondary acute leukemia) where the DFS is about approximately 33%, the relapse 23-34% and MRT 37-60%.


10. Mohamedali AM, Smith AE, Gaken J, Lea NC, Mian SA, Westwood NB, Strupp C, Gattermann N, Germing U, Mufti GJ: Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome. J Clin Oncol; 2009 Aug 20;27(24):4002-6
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  • Four patients had refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS) and UPD4q24, and five patients (refractory anemia with excess blasts-II, n = 1; 5q- syndrome, n = 1; RCMD-RS, n = 1; refractory anemia, n = 1; refractory cytopenia with multilineage dysplasia, n = 1) had no UPD4q24.

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  • (PMID = 19528370.001).
  • [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; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Proto-Oncogene Proteins; 0 / TET2 protein, human
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11. Wong KF, Wong WS, Siu LL, Lau TC, Chan NP: JAK2 V617F mutation is associated with 5q- syndrome in Chinese. Leuk Lymphoma; 2009 Aug;50(8):1333-5
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  • Among other myeloid neoplasms, it occurs with remarkably high frequency in refractory anemia with ring sideroblasts associated with marked thrombocytosis, a group of myeloid neoplasms with both dysplastic and proliferative features.
  • It has also been reported in occasional cases of myelodysplastic syndrome with isolated del(5q), often with a diagnosis of refractory cytopenia with multilineage dysplasia.
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Anemia, Refractory, with Excess of Blasts / enzymology. Anemia, Refractory, with Excess of Blasts / genetics. Codon / genetics. Disease Progression. Female. Hong Kong / epidemiology. Humans. Karyotyping. Leukemia, Myeloid, Acute / enzymology. Leukemia, Myeloid, Acute / genetics. Middle Aged. Retrospective Studies. Syndrome

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  • (PMID = 19562618.001).
  • [ISSN] 1029-2403
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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12. Gupta G, Singh R, Kotasthane DS, Kotasthane VD: Myelodysplastic syndromes/neoplasms: recent classification system based on World Health Organization Classification of Tumors - International Agency for Research on Cancer for Hematopoietic and Lymphoid Tissues. J Blood Med; 2010;1:171-82
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  • The myelodysplastic syndromes are now classified into the following categories - refractory cytopenia with unilineage dysplasia, refractory anemia with ring sideroblasts, refractory cytopenia with multilineage dysplasia, refractory anemia with excess blasts, myelodysplastic syndrome associated with isolated del (5q), myelodysplastic syndrome - unclassifiable, and childhood myelodysplastic syndrome.

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  • (PMID = 22282696.001).
  • [ISSN] 1179-2736
  • [Journal-full-title] Journal of blood medicine
  • [ISO-abbreviation] J Blood Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] New Zealand
  • [Other-IDs] NLM/ PMC3262332
  • [Keywords] NOTNLM ; leukemia / myelodysplastic syndromes
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13. Varma N, Varma S: Proliferative indices, cytogenetics, immunophenotye and other prognostic parameters in myelodysplastic syndromes. Indian J Pathol Microbiol; 2008 Jan-Mar;51(1):97-101
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  • Thirty-five adult myelodysplastic syndrome (MDS) patients were included in this study: 11 refractory anemia (RA), 4 RA with ring sideroblasts (RARS), 9 RA with excess of blasts (RAEB), 10 RAEB in transformation (RAEB-T) and 1 chronic myelomonocytic leukemia (CMML).

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  • (PMID = 18417875.001).
  • [ISSN] 0377-4929
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] India
  • [Chemical-registry-number] 0 / Antigens, Nuclear; 0 / Biomarkers; 0 / Ki-67 Antigen; 0 / nucleolar organizer region associated proteins; 9007-73-2 / Ferritins; EC 1.1.1.27 / L-Lactate Dehydrogenase
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14. Steensma DP, Hecksel KA, Porcher JC, Lasho TL: Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). Leuk Res; 2007 May;31(5):623-8
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  • [Title] Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts).
  • BACKGROUND: For most cases of idiopathic acquired sideroblastic anemia (IASA), the molecular pathogenesis is unknown, despite the consistent morphological signature of abundant pathological ringed sideroblasts with their characteristic iron-engorged mitochondria.
  • FECH was modestly overexpressed in progenitor cells from patients with IASA, compared with MDS patients without sideroblasts and healthy controls.
  • In addition, we analyzed ABCB7 and PUS1, genes implicated in congenital sideroblastic anemia syndromes, but again found no coding mutations in acquired cases.
  • [MeSH-major] ATP-Binding Cassette Transporters / genetics. Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Erythroblasts / pathology. Ferrochelatase / genetics. Hydro-Lyases / genetics. Point Mutation / genetics. Protoporphyrins / genetics

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  • (PMID = 16870250.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / K12 CA 90628
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / ABCB7 protein, human; 0 / ATP-Binding Cassette Transporters; 0 / Protoporphyrins; EC 4.2.1.- / Hydro-Lyases; EC 4.2.1.70 / pseudouridylate synthetase; EC 4.99.1.1 / Ferrochelatase
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15. Huh YO, Medeiros LJ, Ravandi F, Konoplev S, Jorgensen JL, Miranda RN: T-cell large granular lymphocyte leukemia associated with myelodysplastic syndrome: a clinicopathologic study of nine cases. Am J Clin Pathol; 2009 Mar;131(3):347-56
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  • All patients had anemia at initial examination, 7 had neutropenia, and 5 had thrombocytopenia.
  • The MDS was classified as refractory cytopenia with multilineage dysplasia (RCMD, n = 5), refractory anemia (n = 2), RCMD with ringed sideroblasts (n = 1), and chronic myelomonocytic leukemia (n = 1).


16. Giraldo P, Nomdedeu B, Loscertales J, Requena C, de Paz R, Tormo M, Navarro P, Benedit P, Gasquet JA, Aranesp in Myelodysplastic Syndromes (ARM) Study Group: Darbepoetin alpha for the treatment of anemia in patients with myelodysplastic syndromes. Cancer; 2006 Dec 15;107(12):2807-16
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  • [Title] Darbepoetin alpha for the treatment of anemia in patients with myelodysplastic syndromes.
  • BACKGROUND: Anemia occurs as a comorbidity in from 80% to 85% of patients with myelodysplastic syndromes (MDS): It causes fatigue, increases transfusion needs, and reduces quality of life.
  • According to the French-American-British classification system (n = 81 patients), 39.5% had refractory anemia (RA), 46.9% had RA with ringed sideroblasts, 9.9% had RA with excess blasts (RAEB), 1.2% had RAEB in transformation, and 2.5% had chronic myelomonocytic leukemia.
  • [MeSH-major] Anemia / drug therapy. Erythropoietin / analogs & derivatives. Hematinics / therapeutic use. Myelodysplastic Syndromes / complications


17. Cukrová V, Neuwirtová R, Bartůnková J, Jonásová A, Cermák J, Homolková H, Malíková I: [Auto- and alloreactivity of T lymphocytes in myelodysplastic syndrome]. Cas Lek Cesk; 2006;145(8):647-52; discussion 653
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  • When comparing refractory anaemia (RA) and refractory anaemia with ring sideroblasts (RARS) patients, the proportion of negative results was higher in RA (78 %) than in RARS (40 %).
  • [MeSH-minor] Aged. Aged, 80 and over. Anemia, Refractory / immunology. Anemia, Sideroblastic / immunology. Bone Marrow Cells / immunology. Cytotoxicity Tests, Immunologic. Female. Humans. Lymphocyte Culture Test, Mixed. Male. Middle Aged


18. Novotna B, Neuwirtova R, Siskova M, Bagryantseva Y: DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts. Hum Mol Genet; 2008 Jul 15;17(14):2144-9
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  • [Title] DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts.
  • We tested genomic instability in patients with myelodysplastic syndrome (MDS) by the comet assay and verified the suitability of this approach as a tool for analysis of ineffective hematopoiesis in refractory anemia (RA) and RA with ring sideroblasts (RARS).
  • Whether this increase is associated with an increased repair of oxidative damage in DNA arising due to iron deposits in ring sideroblasts remains to be formally proven.
  • [MeSH-major] Anemia, Refractory / genetics. Comet Assay / methods. DNA Damage. Genomic Instability


19. Nikpour M, Pellagatti A, Liu A, Karimi M, Malcovati L, Gogvadze V, Forsblom AM, Wainscoat JS, Cazzola M, Zhivotovsky B, Grandien A, Boultwood J, Hellström-Lindberg E: Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF. Br J Haematol; 2010 Jun;149(6):844-54
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  • [Title] Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF.
  • Refractory anaemia with ring sideroblasts (RARS) is characterized by anaemia, erythroid apoptosis, cytochrome c release and mitochondrial ferritin accumulation.
  • ABCB7, transporting iron from mitochondria to cytosol and associated with inherited ring sideroblast formation was severely suppressed and expression decreased with differentiation, while increasing in NBM cultures.
  • [MeSH-major] Anemia, Refractory / metabolism. Anemia, Sideroblastic / metabolism. Erythroblasts / metabolism. Granulocyte Colony-Stimulating Factor / pharmacology

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  • (PMID = 20408843.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Grant] United Kingdom / Medical Research Council / / 70293801
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 143011-72-7 / Granulocyte Colony-Stimulating Factor; E1UOL152H7 / Iron
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20. Metzgeroth G, Rosée PL, Kuhn C, Schultheis B, Dorn-Beineke A, Hehlmann R, Hastka J: The soluble transferrin receptor in dysplastic erythropoiesis in myelodysplastic syndrome. Eur J Haematol; 2007 Jul;79(1):8-16
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  • METHODS: To exclude influences of other myeloid cells on sTfR, only patients with refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS) and 5q(-) syndrome were included. sTfR was measured nephelometrically (normal range 0.81-1.75 mg/L).


21. Hamada T, Matsuura H, Oono T, Morizane S, Yamasaki O, Asagoe K, Yamamoto T, Tsuji K, Iwatsuki K: Karyotypic analysis of bone marrow cells in pyodermic lesions associated with myelodysplastic syndrome. Arch Dermatol; 2008 May;144(5):643-8
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  • Three patients without morphologic findings suggestive of MDS were diagnosed as having refractory anemia.
  • One female patient had refractory anemia with ringed sideroblasts associated with del(20).
  • Two patients with refractory anemia had a normal karyotype in peripheral blood lymphocytes.
  • [MeSH-minor] Adult. Anemia / etiology. Anemia / genetics. Chromosome Aberrations. Diagnosis, Differential. Female. Gene Deletion. Granulocyte-Macrophage Colony-Stimulating Factor / blood. Humans. Karyotyping. Male. Middle Aged. Neutrophils / pathology. Skin Diseases / etiology. Skin Diseases / genetics. Skin Diseases / pathology. Translocation, Genetic. Trisomy


22. Willis MS, McKenna RW, Peterson LC, Coad JE, Kroft SH: Low blast count myeloid disorders with Auer rods: a clinicopathologic analysis of 9 cases. Am J Clin Pathol; 2005 Aug;124(2):191-8
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  • There were variable degrees of dysplasia; 1 case closely mimicked refractory anemia with ringed sideroblasts.

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  • (PMID = 16040288.001).
  • [ISSN] 0002-9173
  • [Journal-full-title] American journal of clinical pathology
  • [ISO-abbreviation] Am. J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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23. Akyay A, Olcay L, Kuzu I, Bozdoğan N, Ünal-İnce E, İleri T, Tükün A, Yürür-Kutlay N: A child with myelodysplastic syndrome with hypocellular fibrosis. J Pediatr Hematol Oncol; 2010 Nov;32(8):617-20
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  • A 9-year-old girl with intractable anemia, rare mucocutaneous bleeding, and pallor was presented.
  • Further evaluation revealed 10% cellularity with grade IV reticulin fibrosis, immature, and/or dysplastic hematopoietic cells without sideroblasts, or blast increase in biopsy, Monosomy 8 was found in bone marrow aspiration material using FISH.
  • On diagnosis of "Myelodysplastic Syndrome-refractory cytopenia with hypocellular fibrosis," she received a successful allogeneic BM transplantation from her full matched sibling.
  • [MeSH-major] Anemia / pathology. Myelodysplastic Syndromes / pathology. Primary Myelofibrosis / pathology


24. Pellagatti A, Cazzola M, Giagounidis AA, Malcovati L, Porta MG, Killick S, Campbell LJ, Wang L, Langford CF, Fidler C, Oscier D, Aul C, Wainscoat JS, Boultwood J: Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood; 2006 Jul 1;108(1):337-45
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  • CD34+ cells from patients with refractory anemia with ringed sideroblasts (RARS) showed a particular gene expression profile characterized by up-regulation of mitochondrial-related genes and, in particular, of those of heme synthesis (eg, ALAS2).


25. Cho JH, Hur M, Kim SY: Refractory anemia with ring sideroblasts in a young individual. Korean J Hematol; 2010 Mar;45(1):6
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  • [Title] Refractory anemia with ring sideroblasts in a young individual.

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  • (PMID = 21120155.001).
  • [ISSN] 2092-9129
  • [Journal-full-title] The Korean journal of hematology
  • [ISO-abbreviation] Korean J Hematol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2983010
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26. Yu MH, Xu ZF, Li L, Nie L, Liu L, Zhang Y, Qin TJ, Hao YS, Xiao ZJ: [Re-evaluation of classification of myelodysplastic syndromes with low percentage bone marrow blasts]. Zhonghua Xue Ye Xue Za Zhi; 2009 Jan;30(1):3-7
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  • RESULTS: According to the WHO criteria, 5 patients were diagnosed as refractory anemia (RA), 7 as refractory anemia with ringed sideroblasts (RARS), 76 as refractory cytopenia with multilineage dysplasia (RCMD), 9 as RCMD-RS, 35 as MDS-unclassified (MDS-U), 3 as 5q - syndromes, and the rest 75 patients could not be classified suitably.
  • [MeSH-minor] Adolescent. Adult. Aged. Anemia, Refractory / etiology. Child. Child, Preschool. Female. Follow-Up Studies. Humans. Male. Middle Aged. Prognosis. Retrospective Studies. Young Adult


27. Cukrová V, Neuwirtová R, Dolezalová L, Belicková M, Bartůnková J, Jonásová A, Cermák J, Homolková H, Malíková I: Defective cytotoxicity of T lymphocytes in myelodysplastic syndrome. Exp Hematol; 2009 Mar;37(3):386-94
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  • The response to allogeneic cells was impaired in 11 of 16 MDS patients, more often in refractory anemia (RA; 80%) than in RA with ring sideroblasts (40%).
  • [MeSH-minor] Anemia, Refractory / immunology. Anemia, Refractory, with Excess of Blasts / immunology. Case-Control Studies. Clone Cells. Humans. Immunity. Leukocytes / pathology


28. Cuijpers ML, Raymakers RA, Mackenzie MA, de Witte TJ, Swinkels DW: Recent advances in the understanding of iron overload in sideroblastic myelodysplastic syndrome. Br J Haematol; 2010 May;149(3):322-33
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  • A subgroup, the so-called sideroblastic MDS, shows ring sideroblasts in the bone marrow aspirate that represent mitochondrial iron accumulation.
  • Mitochondrial iron accumulation is observed in several subtypes of MDS, and predominantly in refractory anaemia with ring sideroblasts.
  • The presence of ring sideroblasts is also the diagnostic hallmark in patients with inherited forms of sideroblastic anaemia.
  • The ever-increasing insights into the affected pathways in inherited sideroblastic anaemia may lead to a better comprehension of the pathogenesis of mitochondrial iron accumulation in MDS patients.
  • [MeSH-minor] Anemia, Sideroblastic / complications. Anemia, Sideroblastic / metabolism. Humans. Iron Chelating Agents / therapeutic use. Mitochondria / metabolism


29. Balleari E, Rossi E, Clavio M, Congiu A, Gobbi M, Grosso M, Secondo V, Spriano M, Timitilli S, Ghio R: Erythropoietin plus granulocyte colony-stimulating factor is better than erythropoietin alone to treat anemia in low-risk myelodysplastic syndromes: results from a randomized single-centre study. Ann Hematol; 2006 Mar;85(3):174-80
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  • [Title] Erythropoietin plus granulocyte colony-stimulating factor is better than erythropoietin alone to treat anemia in low-risk myelodysplastic syndromes: results from a randomized single-centre study.
  • Haemopoietic growth factors (HGF), i.e. erythropoietin [recombinant human erythropoietin (rHEPO)] or granulocyte colony stimulating factor (G-CSF), alone or in combination, have largely been used to treat anemia in myelodysplastic syndromes (MDS), but whether combined rHEPO and G-CSF is really superior to rHEPO alone is still under debate.
  • Both haematological response and changes in quality-of-life (QoL) scores (Functional Assessment of Cancer Therapy-Anemia) were recorded and evaluated.
  • Thirty consecutive patients [10 refractory anemia (RA), 5 RA with ringed sideroblasts, 7 refractory cytopenia with multilineage dysplasia, 5 RA with less than 10% blasts and 3 5q-syndrome] were enrolled in the study.
  • Although our data were obtained from a relatively small cohort of patients, they indicate that the rHEPO+G-CSF treatment is more effective than rHEPO alone for correcting anemia in low-risk MDS patients and for making a relevant improvement in their QoL.
  • [MeSH-major] Anemia / drug therapy. Erythropoietin / administration & dosage. Granulocyte Colony-Stimulating Factor / administration & dosage. Myelodysplastic Syndromes / drug therapy


30. Ishikawa T, Tohyama K, Nakao S, Yoshida Y, Teramura M, Motoji T, Takatoku M, Kurokawa M, Mitani K, Uchiyama T, Omine M: A prospective study of cyclosporine A treatment of patients with low-risk myelodysplastic syndrome: presence of CD55(-)CD59(-) blood cells predicts platelet response. Int J Hematol; 2007 Aug;86(2):150-7
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  • We treated 20 myelodysplastic syndrome patients (17 refractory anemia cases [RA], 2 RA with excess blasts, and one RA with ringed sideroblasts) with 4 mg/kg per day of CSA for 24 weeks.
  • Short duration of illness, refractory anemia with minimal dysplasia determined by bone marrow morphology, and the presence of paroxysmal nocturnal hemoglobinuria-type cells were significantly associated with the platelet response.

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  • (PMID = 17875530.001).
  • [ISSN] 0925-5710
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Antigens, CD55; 0 / Antigens, CD59; 0 / Immunosuppressive Agents; 83HN0GTJ6D / Cyclosporine
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31. Gill H, Choi WW, Kwong YL: Refractory anemia with ringed sideroblasts: more than meets the eye. J Clin Oncol; 2010 Nov 10;28(32):e654-5
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  • [Title] Refractory anemia with ringed sideroblasts: more than meets the eye.
  • [MeSH-major] Anemia, Refractory / diagnosis. Anemia, Sideroblastic / complications

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  • (PMID = 20713854.001).
  • [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] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 789U1901C5 / Copper
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32. Raptis A, Duh MS, Wang ST, Dial E, Fanourgiakis I, Fortner B, Paley C, Mody-Patel N, Corral M, Scott J: Treatment of transfusional iron overload in patients with myelodysplastic syndrome or severe anemia: data from multicenter clinical practices. Transfusion; 2010 Jan;50(1):190-9
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  • [Title] Treatment of transfusional iron overload in patients with myelodysplastic syndrome or severe anemia: data from multicenter clinical practices.
  • BACKGROUND: Patients with myelodysplastic syndrome (MDS) or severe anemia requiring repeated red blood cell (RBC) transfusions risk developing transfusional iron overload, which can reduce survival.
  • STUDY DESIGN AND METHODS: Medical records of patients diagnosed with MDS or severe anemia at least 6 months before data extraction, aged at least 21 years at diagnosis, and who received at least one RBC transfusion were reviewed.
  • Study endpoint was ICT treatment rate among ICT-eligible patients with lower-risk MDS (International Prognostic Scoring System [low or intermediate-1]; World Health Organization [refractory anemia {RA}, refractory anemia with ringed sideroblasts {RARS}, refractory cytopenia with multilineage dysplasia {RCMD}, refractory cytopenia with multilineage dysplasia and ringed sideroblasts, or 5q]; French-American-British [RA/RARS]).
  • [MeSH-major] Anemia, Iron-Deficiency / therapy. Blood Transfusion / adverse effects. Iron Overload / therapy. Myelodysplastic Syndromes / therapy


33. Navarro I, Ruiz MA, Cabello A, Collado R, Ferrer R, Hueso J, Martinez J, Miguel A, Orero MT, Pérez P, Nolasco A, Carbonell F: Classification and scoring systems in myelodysplastic syndromes: a retrospective analysis of 311 patients. Leuk Res; 2006 Aug;30(8):971-7
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  • To this effect, we analyzed the prognostic impact of the WHO and French-American-British (FAB) morphologic classifications and of four different scoring systems in a series of 311 patients with primary MDS diagnosed between October 1990 and June 2001.
  • Both the FAB and WHO classifications identified groups with different prognoses (p<0.0001), those presenting refractory anemia (RA) and refractory anemia with ringed sideroblasts (RARS) showing the best prognosis.
  • The WHO classification subdivided RA into RA with only red cell dysplasia, and refractory cytopenia with multilineage dysplasia (RCMD), and RARS into RARS plus refractory cytopenia with multilineage dysplasia and ringed sideroblast (RCMD-RS).
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Anemia, Refractory / classification. Anemia, Refractory / diagnosis. Anemia, Sideroblastic / classification. Anemia, Sideroblastic / diagnosis. Cytogenetic Analysis. Female. Humans. Karyotyping. Male. Middle Aged. Prognosis. Retrospective Studies. Survival Analysis. Survival Rate. Time Factors. World Health Organization


34. Kerbauy DM, Lesnikov V, Abbasi N, Seal S, Scott B, Deeg HJ: NF-kappaB and FLIP in arsenic trioxide (ATO)-induced apoptosis in myelodysplastic syndromes (MDSs). Blood; 2005 Dec 1;106(12):3917-25
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  • Here, we show that bone marrow mononuclear cells (BMMCs) and purified CD34+ cells from patients with low-grade/early-stage MDS (refractory anemia/refractory anemia with ring sideroblasts [RA/RARS]) have low levels of NF-kappaB activity in nuclear extracts comparable with normal marrow, while patients with RA with excess blasts (RAEB) show significantly increased levels of activity (P = .008).

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  • (PMID = 16105982.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA87948; United States / NHLBI NIH HHS / HL / HL36444; United States / NHLBI NIH HHS / HL / HL66947
  • [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 / Anti-Inflammatory Agents, Non-Steroidal; 0 / Apoptosis Regulatory Proteins; 0 / Arsenicals; 0 / CASP8 and FADD-Like Apoptosis Regulating Protein; 0 / CFLAR protein, human; 0 / Growth Inhibitors; 0 / Immunoglobulin G; 0 / Intracellular Signaling Peptides and Proteins; 0 / Membrane Glycoproteins; 0 / NF-kappa B; 0 / Oxides; 0 / Receptors, Tumor Necrosis Factor; 0 / TNF-Related Apoptosis-Inducing Ligand; 0 / TNFSF10 protein, human; 0 / Tumor Necrosis Factor-alpha; GAN16C9B8O / Glutathione; OP401G7OJC / Etanercept; S7V92P67HO / arsenic trioxide
  • [Other-IDs] NLM/ PMC1895102
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35. Houwerzijl EJ, Pol HW, Blom NR, van der Want JJ, de Wolf JT, Vellenga E: Erythroid precursors from patients with low-risk myelodysplasia demonstrate ultrastructural features of enhanced autophagy of mitochondria. Leukemia; 2009 May;23(5):886-91
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  • In this study we therefore questioned whether the autophagic clearance of mitochondria might be altered in erythroblasts from patients with refractory anemia (RA, n=3) and RA with ringed sideroblasts (RARS, n=6).
  • [MeSH-major] Anemia, Refractory / pathology. Anemia, Sideroblastic / pathology. Autophagy. Erythroblasts / ultrastructure. Erythroid Precursor Cells / ultrastructure. Mitochondria / ultrastructure

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  • (PMID = 19148135.001).
  • [ISSN] 1476-5551
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / LAMP2 protein, human; 0 / Lysosomal-Associated Membrane Protein 2; 0 / Lysosome-Associated Membrane Glycoproteins; EC 3.4.22.- / Caspase 3
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36. Hall J, Foucar K: Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders. Int J Lab Hematol; 2010 Dec;32(6 Pt 2):559-71
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  • There are four main subcategories, chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia, BCR-ABL1-negative (aCML), juvenile myelomonocytic leukemia (JMML), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U), which also includes the provisional entity, refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T).
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Anemia, Refractory, with Excess of Blasts / diagnosis. Bone Marrow / pathology. Diagnosis, Differential. Erythrocytes / pathology. Female. Flow Cytometry. Granulocytes / pathology. Humans. Immunohistochemistry. Leukemia, Myeloid / diagnosis. Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / diagnosis. Leukemia, Myelomonocytic, Chronic / diagnosis. Leukemia, Myelomonocytic, Juvenile / diagnosis. Male. Megakaryocytes / pathology. Neutrophils / pathology. Proto-Oncogene Proteins c-abl / analysis. Proto-Oncogene Proteins c-bcr / analysis. Thrombocytosis / diagnosis

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  • [Copyright] © 2010 Blackwell Publishing Ltd.
  • (PMID = 20670271.001).
  • [ISSN] 1751-553X
  • [Journal-full-title] International journal of laboratory hematology
  • [ISO-abbreviation] Int J Lab Hematol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.10.2 / Proto-Oncogene Proteins c-abl; EC 2.7.11.1 / Proto-Oncogene Proteins c-bcr
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37. Malcovati L, Della Porta MG, Pietra D, Boveri E, Pellagatti A, Gallì A, Travaglino E, Brisci A, Rumi E, Passamonti F, Invernizzi R, Cremonesi L, Boultwood J, Wainscoat JS, Hellström-Lindberg E, Cazzola M: Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood; 2009 Oct 22;114(17):3538-45
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  • [Title] Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.
  • We studied patients with myeloid neoplasm associated with ringed sideroblasts and/or thrombocytosis.
  • The combination of ringed sideroblasts 15% or greater and platelet count of 450 x 10(9)/L or greater was found in 19 subjects fulfilling the diagnostic criteria for refractory anemia with ringed sideroblasts (RARS) associated with marked thrombocytosis (RARS-T), and in 3 patients with primary myelofibrosis.
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts / genetics. Anemia, Refractory, with Excess of Blasts / pathology. Thrombocytosis / genetics. Thrombocytosis / pathology

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  • (PMID = 19692701.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Receptors, Thrombopoietin; 143641-95-6 / MPL protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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38. Lyons RM, Cosgriff TM, Modi SS, Gersh RH, Hainsworth JD, Cohn AL, McIntyre HJ, Fernando IJ, Backstrom JT, Beach CL: Hematologic response to three alternative dosing schedules of azacitidine in patients with myelodysplastic syndromes. J Clin Oncol; 2009 Apr 10;27(11):1850-6
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  • RESULTS: Of patients randomly assigned to AZA 5-2-2 (n = 50), AZA 5-2-5 (n = 51), or AZA 5 (n = 50), most were French-American-British (FAB) lower risk (refractory anemia [RA]/RA with ringed sideroblasts/chronic myelomonocytic leukemia with < 5% bone marrow blasts, 63%) or RA with excess blasts (30%), and 79 (52%) completed > or = six treatment cycles.


39. Atallah E, Nussenzveig R, Yin CC, Bueso-Ramos C, Tam C, Manshouri T, Pierce S, Kantarjian H, Verstovsek S: Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. Leukemia; 2008 Jun;22(6):1295-8
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  • [Title] Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis.
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Janus Kinase 2 / genetics. Myelodysplastic Syndromes / genetics. Myeloproliferative Disorders / genetics. Point Mutation / genetics. Thrombocytosis / genetics


40. Konstantou JK, Iliadi AC, Ioannou PC, Christopoulos TK, Anagnostopoulos NI, Kanavakis E, Traeger-Synodinos J: Visual screening for JAK2V617F mutation by a disposable dipstick. Anal Bioanal Chem; 2010 Jul;397(5):1911-6
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  • During the last 5 years, it was discovered that the JAK2V617F somatic mutation is present in virtually all patients with polycythemia vera and a large proportion of patients with essential thrombocythemia, primary myelofibrosis, and refractory anemia with ring sideroblasts and thrombocytosis.

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  • (PMID = 20428846.001).
  • [ISSN] 1618-2650
  • [Journal-full-title] Analytical and bioanalytical chemistry
  • [ISO-abbreviation] Anal Bioanal Chem
  • [Language] eng
  • [Publication-type] Evaluation Studies; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA Primers; EC 2.7.10.2 / Janus Kinase 2
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41. Sheftel AD, Richardson DR, Prchal J, Ponka P: Mitochondrial iron metabolism and sideroblastic anemia. Acta Haematol; 2009;122(2-3):120-33
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  • [Title] Mitochondrial iron metabolism and sideroblastic anemia.
  • The unifying characteristic of all sideroblastic anemias is the ring sideroblast, which is a pathological erythroid precursor containing excessive deposits of non-heme iron in mitochondria with perinuclear distribution creating a ring appearance.
  • Acquired sideroblastic anemias are either primary (refractory anemia with ring sideroblasts, RARS, representing one subtype of the myelodysplastic syndrome) or secondary due to some drugs, toxins, copper deficiency, or chronic neoplastic disease.
  • Ring sideroblasts can develop as a result of a heme synthesis defect in erythroblasts (ALAS2 mutations), a defect in iron-sulfur cluster assembly, iron-sulfur protein precursor release from mitochondria (ABCB7 mutations), or by a defect in intracellular iron metabolism in erythroid cells (e.g. RARS).
  • [MeSH-major] Anemia, Sideroblastic / metabolism. Iron / metabolism. Mitochondria / metabolism

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  • [Copyright] Copyright 2009 S. Karger AG, Basel.
  • (PMID = 19907149.001).
  • [ISSN] 1421-9662
  • [Journal-full-title] Acta haematologica
  • [ISO-abbreviation] Acta Haematol.
  • [Language] eng
  • [Grant] Canada / Canadian Institutes of Health Research / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] E1UOL152H7 / Iron
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42. Boissinot M, Garand R, Hamidou M, Hermouet S: The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood; 2006 Sep 1;108(5):1781-2
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  • [Title] The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS).
  • [MeSH-major] Amino Acid Substitution. Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Protein-Tyrosine Kinases / genetics. Proto-Oncogene Proteins / genetics. Thrombocythemia, Essential / genetics

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  • (PMID = 16926301.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Proto-Oncogene Proteins; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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43. Raza A, Mehdi M, Mumtaz M, Ali F, Lascher S, Galili N: Combination of 5-azacytidine and thalidomide for the treatment of myelodysplastic syndromes and acute myeloid leukemia. Cancer; 2008 Oct 1;113(7):1596-604
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  • Six patients had refractory anemia (RA), 2 patients had RA with ringed sideroblasts, 10 patients had RA with excess blasts (RAEB), 1 patient had RAEB in transformation, 4 patients had chronic myelomonocytic leukemia, 1 patient had chronic idiopathic myelofibrosis, and 16 patients had AML.


44. Bacher U, Haferlach T, Kern W, Haferlach C, Schnittger S: A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. Haematologica; 2007 Jun;92(6):744-52
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  • DESIGN AND METHODS: We compared the frequency of FLT3-length mutations (FLT3-LM), FLT3-TKD, MLL-partial tandem duplications (MLL-PTD), NRAS, and KITD816 in 381 patients with MDS refractory anemia with excess blasts [RAEB] n=49; with ringed sideroblasts [RARS] n=310; chronic monomyelocytic leukemia [CMML] n=22) and in 4130 patients with AML (de novo: n=3139; secondary AML [s-AML] following MDS: n=397; therapy-related [t-AML]: n=233; relapsed: n=361).


45. Nearman ZP, Szpurka H, Serio B, Warshawksy I, Theil K, Lichtin A, Sekeres MA, Maciejewski JP: Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. Am J Hematol; 2007 Dec;82(12):1076-9
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  • [Title] Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts.
  • We studied a cohort of 140 MDS patients: 42 with RARS, 10 with increased ringed sideroblasts, and 96 with other forms of MDS (43 RA, 27 RAEB, 17 RAEB-T, 8 MDS/MPD, 1 CMML).
  • Increased prevalence of HFE gene mutations is not a generalized feature of MDS, but some subgroups of MDS, especially those characterized by excessive accumulation of ringed sideroblasts, exhibit C282Y mutations at a higher frequency than in other forms of MDS and healthy controls.
  • [MeSH-major] Anemia, Sideroblastic / genetics. Hemochromatosis / genetics. Mutation. Myelodysplastic Syndromes / genetics


46. Jekarl DW, Han SB, Kim M, Lim J, Oh EJ, Kim Y, Kim HJ, Min WS, Han K: JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. Korean J Hematol; 2010 Mar;45(1):46-50
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  • [Title] JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia.
  • This mutation occurs less frequently in acute myeloid leukemia (AML) and other hematologic diseases, such as myelodysplastic syndrome (MDS); myelodysplatic syndrome/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U); and refractory anemia with ring sideroblasts with thrombocytosis (RARS-T).

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  • (PMID = 21120162.001).
  • [ISSN] 2092-9129
  • [Journal-full-title] The Korean journal of hematology
  • [ISO-abbreviation] Korean J Hematol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2983014
  • [Keywords] NOTNLM ; AML / JAK2 V617F / MDS / MDS/MPN-U / RARS-T
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47. Bandelt HJ, Salas A, Bravi CM: What is a 'novel' mtDNA mutation--and does 'novelty' really matter? J Hum Genet; 2006;51(12):1073-82
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  • By reanalyzing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying on MITOMAP can be most misleading.
  • [MeSH-minor] Anemia, Refractory, with Excess of Blasts / genetics. Databases, Genetic. Genetic Variation. Genome, Human. Hearing Loss / genetics. Humans. Internet. Male. Polymorphism, Single Nucleotide. Prostatic Neoplasms / genetics

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  • (PMID = 17021933.001).
  • [ISSN] 1434-5161
  • [Journal-full-title] Journal of human genetics
  • [ISO-abbreviation] J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / DNA, Mitochondrial
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48. Sonneck K, Mannhalter C, Krauth MT, Sperr WR, Schwarzinger I, Fonatsch C, Haas O, Geissler K, Valent P: An unusual case of myelodysplastic syndrome with prolonged clonal stability, indolent clinical course over a decade, and spontaneous regression of AML in the terminal phase. Eur J Haematol; 2005 Jul;75(1):73-7
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  • The patient, a 67-yr-old female, had first been diagnosed to suffer from low-risk myelodysplastic syndrome, subtype refractory anemia with ringed sideroblasts, in 1992.


49. Çetiner M, Fıratlı Tuğlular T, Özen Al Ahdab Y, Al Ahdab H, Köse M, Noyan F, Adıgüzel C, Ovalı E, Bayık M: Amifostine treatment in patients with myelodysplastic syndrome. Turk J Haematol; 2005 Sep 5;22(3):117-23
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  • Myelodysplastic syndrome (MDS) is a clonal disorder that is characterized by peripheral cytopenia and the induction of apoptosis is thought to be partially responsible for pathological haematopoiesis in MDS.
  • Four of them were diagnosed as refractory anemia (MDS-RA), two as refractory anemia with ring sideroblasts (MDS-RARS) and the remaining three as refractory anemia with excess blasts (MDS-RAEB) according to the French-American-British (FAB) classification.

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  • (PMID = 27264833.001).
  • [ISSN] 1300-7777
  • [Journal-full-title] Turkish journal of haematology : official journal of Turkish Society of Haematology
  • [ISO-abbreviation] Turk J Haematol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Turkey
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50. Ramirez JM, Schaad O, Durual S, Cossali D, Docquier M, Beris P, Descombes P, Matthes T: Growth differentiation factor 15 production is necessary for normal erythroid differentiation and is increased in refractory anaemia with ring-sideroblasts. Br J Haematol; 2009 Jan;144(2):251-62
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  • [Title] Growth differentiation factor 15 production is necessary for normal erythroid differentiation and is increased in refractory anaemia with ring-sideroblasts.
  • The disturbed erythropoiesis in patients with refractory anaemia with ring-sideroblasts (RARS) is characterized by intramedullary apoptosis of erythroid precursors and increased iron accumulation in mitochondria.
  • [MeSH-major] Anemia, Refractory / metabolism. Anemia, Sideroblastic / metabolism. Erythroid Precursor Cells / chemistry. Growth Differentiation Factor 15 / analysis

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  • (PMID = 19036111.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Growth Differentiation Factor 15
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51. Germing U, Strupp C, Kuendgen A, Isa S, Knipp S, Hildebrandt B, Giagounidis A, Aul C, Gattermann N, Haas R: Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes. Haematologica; 2006 Dec;91(12):1596-604
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  • DESIGN AND METHODS: We classified 1095 patients with MDS diagnosed at our institution between November 1999 and December 2004 according to French-American-British (FAB) and WHO criteria by central morphologic review.
  • RESULTS: According to the WHO classification, there were 89 cases of refractory anemia (RA), 293 of refractory cytopenias with multilineage dysplasia (RCMD), 31 RA with ringed sideroblasts (RARS), 139 RCMD with ringed sideroblasts (RCMD-RS), 142 RA with excess blasts (RAEB) I and 149 RAEB II and 52 patients with 5q- syndrome.


52. Qi H, Xiao L, Lingyun W, Ying T, Yi-Zhi L, Shao-Xu Y, Quan P: Expression of type 1 insulin-like growth factor receptor in marrow nucleated cells in malignant hematological disorders: correlation with apoptosis. Ann Hematol; 2006 Feb;85(2):95-101
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  • In MDS nucleated cells, IGF-IR showed stronger expression in refractory anemia with excess blasts (RAEB)/RAEB in transformation/chronic myelomonocytic leukemia subgroup when compared to RA/RA with ringed sideroblasts cases (64.1+/-3.2 vs 53.5+/-16.2%) (P>0.05).
  • [MeSH-minor] Adolescent. Adult. Aged. Aged, 80 and over. Anemia / metabolism. Cell Transformation, Neoplastic. Child. Female. Humans. Male. Middle Aged


53. Renneville A, Quesnel B, Charpentier A, Terriou L, Crinquette A, Laï JL, Cossement C, Lionne-Huyghe P, Rose C, Bauters F, Preudhomme C: High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Leukemia; 2006 Nov;20(11):2067-70
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  • [Title] High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Janus Kinase 2 / genetics. Point Mutation. Thrombocytosis / genetics

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  • (PMID = 16990759.001).
  • [ISSN] 0887-6924
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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54. Dixit A, Chatterjee T, Mishra P, Choudhary DR, Mahapatra M, Saxena R, Choudhry VP: Cyclosporin A in myelodysplastic syndrome: a preliminary report. Ann Hematol; 2005 Sep;84(9):565-8
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  • We evaluated response to cyclosporin A (CyA) in 19 cases with MDS who were enrolled for the study [13 refractory anemia (RA), 5 refractory anemia with excess of blasts (RAEB), and 1 refractory anemia with ringed sideroblasts (RARS)].
  • [MeSH-minor] Adult. Aged. Anemia, Refractory / drug therapy. Anemia, Refractory, with Excess of Blasts / drug therapy. Anemia, Sideroblastic / drug therapy. Bone Marrow / pathology. Female. Humans. Leukocyte Count. Male. Middle Aged. Platelet Count. Renal Insufficiency / chemically induced. Treatment Outcome


55. Wardrop D, Steensma DP: Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category? Br J Haematol; 2009 Mar;144(6):809-17
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  • [Title] Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category?
  • Both the 2001 World Health Organisation (WHO) classification of haematopoietic neoplasms and the 2008 WHO classification revision include a distinctive diagnostic category, refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T), to describe those rare patients who have both >or=15% ring sideroblasts and a sustained elevated platelet count.
  • Given that the provisional classification of RARS-T as a myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndrome, rather than as a form of MPN (i.e., ET), rests principally upon the presence of ring sideroblasts, which are a non-specific morphological finding, these new molecular results prompt reconsideration of the necessity for a distinctive RARS-T category.
  • [MeSH-major] Anemia, Refractory / classification

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  • (PMID = 19120370.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 9014-42-0 / Thrombopoietin; EC 2.7.10.2 / Janus Kinase 2
  • [Number-of-references] 70
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56. Schnittger S, Bacher U, Haferlach C, Dengler R, Kröber A, Kern W, Haferlach T: Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia; 2008 Feb;22(2):453-5
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  • [Title] Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis.
  • [MeSH-minor] Anemia, Refractory / diagnosis. Anemia, Sideroblastic / diagnosis. Humans. Janus Kinase 2 / genetics. Male. Middle Aged. Thrombocythemia, Essential / diagnosis. Thrombocytosis / diagnosis

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  • (PMID = 17713548.001).
  • [ISSN] 1476-5551
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Thrombopoietin; 143641-95-6 / MPL protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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57. Remacha AF, Nomdedéu JF, Puget G, Estivill C, Sarda MP, Canals C, Aventin A: Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica; 2006 May;91(5):719-20
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  • [Title] Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis.
  • We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T).
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Mutation, Missense. Myelodysplastic Syndromes / classification. Myeloproliferative Disorders / classification. Point Mutation. Protein-Tyrosine Kinases / genetics. Proto-Oncogene Proteins / genetics. Thrombocytosis / genetics


58. Yao DM, Qian J, Xu WR, Lin J, Jiang YW, Fei X, Han LX, Wang Y, Cen JN, Chen ZX: [Alteration of methylation status of fragile histidine triad gene promoter in patients with myelodysplastic syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb;25(1):36-9
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  • Although significant difference was not observed in the frequencies of FHIT gene hypermethylation among patients with refractory anemia/refractory anemia with ringed sideroblasts (RA/RAS) (1/6, 16.7%), refractory anemia/refractory anemia with ringed sideroblasts (RCMD) and refractory cytopenia with multilineage dysplasia with ringed blasts (RCMD-RS) (6/19, 31.6%), refractory anemia with excess blasts-1 (RAEB-1) (7/11, 63.6%), refractory anemia with excess blasts-2 (RAEB-2) (4/7, 57.1%) and refractory anemia with excess blasts in transformation/acute myeloid leukemia (RAEBt/AML) (8/11, 72.7%)(chi-square=8.417, P=0.077), it was observed in patients in early stages (RA/RAS and RCMD) (7/25, 28.0%), advanced stages (RAEB-1 and RAEB-2)(11/18, 61.1%) and RAEBt/AML (8/11, 72.7%) (chi-square=7.938, P=0.019).

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  • (PMID = 18247301.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Neoplasm Proteins; 0 / fragile histidine triad protein; EC 3.6.- / Acid Anhydride Hydrolases
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59. Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H, Littlewood TJ, Malcovati L, Della Porta MG, Jädersten M, Killick S, Giagounidis A, Bowen D, Hellström-Lindberg E, Cazzola M, Wainscoat JS: The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS One; 2008 Apr 09;3(4):e1970
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  • [Title] The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.
  • Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts.
  • We considered that the inherited X-linked sideroblastic anemia with ataxia (XLSA/A) might be informative for the acquired disorder, RARS.
  • We have investigated ABCB7 gene expression levels in the CD34(+) cells of 122 MDS cases, comprising 35 patients with refractory anemia (RA), 33 patients with RARS and 54 patients with RA with excess blasts (RAEB), and in the CD34(+) cells of 16 healthy controls.
  • Moreover, we find a strong relationship between increasing percentage of bone marrow ring sideroblasts and decreasing ABCB7 gene expression levels.
  • These data provide an important link between inherited and acquired forms of sideroblastic anemia and indicate that ABCB7 is a strong candidate gene for RARS.
  • [MeSH-major] ATP-Binding Cassette Transporters / physiology. Anemia, Refractory / metabolism. Anemia, Sideroblastic / metabolism

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  • (PMID = 18398482.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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60. Strom SS, Gu Y, Gruschkus SK, Pierce SA, Estey EH: Risk factors of myelodysplastic syndromes: a case-control study. Leukemia; 2005 Nov;19(11):1912-8
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  • The distribution by French-American-British (FAB) type was 67 (19%) refractory anemia (RA), 38 (11%) refractory anemia with ringed sideroblasts (RARS), 43 (12%) chronic myelomonocytic leukemia (CMML), 136 (38%) RA with excess blasts (RAEB), and 70 (20%) RAEB in transformation (RAEBT).


61. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, Sekeres MA, Maciejewski JP: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood; 2006 Oct 1;108(7):2173-81
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  • [Title] Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation.
  • Within this group, most of the patients harboring JAK2 V617F mutation showed features consistent with the provisional MDS/MPD-U entity refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T).

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  • (PMID = 16741247.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / R01 HL082983-01; United States / NHLBI NIH HHS / HL / R01 HL73429-01; United States / NCRR NIH HHS / RR / U54 RR019391-01
  • [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 / Proto-Oncogene Proteins; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
  • [Other-IDs] NLM/ PMC1895556
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62. Hou L, Liu T: [Relationship of mitochondrial DNA mutation with myelodysplastic syndromes - review]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Aug;13(4):709-12
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  • Recently, it has been documented that ringed sideroblasts are not only confined to the refractory anemia with ring sideroblast (RARS) subtype of MDS, but also contribute to numerous underlying MDS pathophysiological processes as a significant feature of dysplasia.


63. Tehranchi R: Impact of growth factors in the regulation of apoptosis in low-risk myelodysplastic syndromes. Med Oncol; 2006;23(1):37-49
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  • Erythroid apoptosis is thought to be the main mechanism underlying the severe anemia observed in the low-risk subgroups, refractory anemia (RA) and RA with ringed sideroblasts (RARS).
  • Treatment with erythropoietin (Epo) alone or in combination with granulocyte colony-stimulating factor (G-CSF) may significantly improve anemia and reduce bone marrow apoptosis.

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  • (PMID = 16645228.001).
  • [ISSN] 1357-0560
  • [Journal-full-title] Medical oncology (Northwood, London, England)
  • [ISO-abbreviation] Med. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA, Mitochondrial; 11096-26-7 / Erythropoietin; 143011-72-7 / Granulocyte Colony-Stimulating Factor; 9007-73-2 / Ferritins
  • [Number-of-references] 136
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64. Müller-Berndorff H, Haas PS, Kunzmann R, Schulte-Mönting J, Lübbert M: Comparison of five prognostic scoring systems, the French-American-British (FAB) and World Health Organization (WHO) classifications in patients with myelodysplastic syndromes: Results of a single-center analysis. Ann Hematol; 2006 Aug;85(8):502-13
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  • The new WHO subgroups [refractory cytopenia with multilineage dysplasia (RCMD), with (RCMD-RS) or without ringed sideroblasts] showed a significantly (P = 0.0454) different prognosis for OS, but not for LFS (P = 0.0839), in comparison to the subgroups having erythroid dysplasia only (RA/RARS).
  • Risk stratification into refractory anemia with excess blast-I (RAEB-I) and RAEB-II tended to yield different prognoses for OS and LFS.
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts. Anemia, Sideroblastic


65. Charafeddine KM, Ibrahim GY, Mahfouz RA, Zaatari GS, Salem ZM: Chronic lymphocytic leukemia associated with myelodysplastic syndrome with ring sideroblasts. South Med J; 2010 Aug;103(8):823-7
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  • [Title] Chronic lymphocytic leukemia associated with myelodysplastic syndrome with ring sideroblasts.
  • We describe a 69-year-old CLL patient who developed MDS with ring sideroblasts 1 year after diagnosis of CLL and without any previous treatment.
  • In cases of worsening anemia in CLL patients, it is recommended that an iron stain be performed on bone marrow aspirates to exclude a coexistent malignancy such as refractory anemia with ring sideroblasts.
  • [MeSH-minor] Aged. Anemia, Sideroblastic / complications. Anemia, Sideroblastic / diagnosis. Biopsy, Needle. Bone Marrow / pathology. Flow Cytometry. Humans. Male


66. Barcellini W, Zaninoni A, Imperiali FG, Boschetti C, Colombi M, Iurlo A, Zanella A: Anti-erythroblast autoimmunity in early myelodysplastic syndromes. Haematologica; 2007 Jan;92(1):19-26
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  • BACKGROUND AND OBJECTIVES: Autoimmune phenomena, mainly directed against red blood cells are described in myelodysplastic syndromes (MDS), particularly early MDS, i.e. refractory anemia (RA) and RA with ringed sideroblasts (RARS).
  • [MeSH-major] Anemia, Refractory / immunology. Autoimmunity / immunology. Erythroblasts / metabolism. Myelodysplastic Syndromes / immunology


67. Huls G, Mulder AB, Rosati S, van de Loosdrecht AA, Vellenga E, de Wolf JT: Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. Blood; 2010 Jul 15;116(2):180-2
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  • [Title] Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.
  • Patients with refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) are difficult to treat because the cytoreductive treatment might be beneficial for the thrombocytosis component but harmful for the RARS component.
  • We report the results of lenalidomide treatment in these patients and show that lenalidomide has clinical activity in this rare disorder.
  • [MeSH-major] Anemia, Refractory / drug therapy. Anemia, Sideroblastic / drug therapy. Antineoplastic Agents / therapeutic use. Janus Kinase 2 / genetics. Thalidomide / analogs & derivatives. Thrombocytosis / drug therapy

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  • (PMID = 20194893.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anabolic Agents; 0 / Antineoplastic Agents; 11096-26-7 / Erythropoietin; 12001-76-2 / Vitamin B Complex; 4Z8R6ORS6L / Thalidomide; EC 2.7.10.2 / Janus Kinase 2; F0P408N6V4 / lenalidomide; KV2JZ1BI6Z / Pyridoxine
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68. Solomon SR, Savani BN, Childs R, Montero A, Boss C, Read EJ, Leitman SF, Barrett AJ: Improved outcome for peripheral blood stem cell transplantation for advanced primary myelodysplastic syndrome. Biol Blood Marrow Transplant; 2005 Aug;11(8):619-26
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  • Thirty-seven (86%) had advanced disease (refractory anemia with excess blasts [n = 9], refractory anemia with excess blasts in transformation [n = 6], acute myelogenous leukemia [n = 13], or treatment-related MDS [n = 9]); 6 had low-risk MDS (refractory anemia or refractory anemia with ringed sideroblasts).
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts / mortality. Anemia, Refractory, with Excess of Blasts / therapy. Peripheral Blood Stem Cell Transplantation / mortality
  • [MeSH-minor] Adolescent. Adult. Aged. Anemia, Refractory. Child. Disease-Free Survival. Female. Humans. Male. Middle Aged. Recurrence. Retrospective Studies. Transplantation Conditioning. Transplantation, Homologous. Treatment Outcome


69. Chen SC, Jiang B, Da WM, Gong M, Guan M: [Curative effects of cyclosporin A therapy upon myelodysplastic syndrome]. Zhonghua Yi Xue Za Zhi; 2006 Oct 17;86(38):2711-5
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  • METHODS: Thirty-three patients with MDS, including refractory anemia (RA, n = 24), refractory anemia with ringed sideroblasts (RAS, n = 2), and refractory anemia with excess blasts (RAEB, n = 7), 23 males and 10 females, aged 46 (6 approximately 71), hospitalized in 4 CsA, grade 3 hospitals in Beijing who failed to respond to folic acid and vitamin B12, received CsA 3 approximately 5 mg x kg(-1)x d(-1), 2 times per days, taken orally in 2 separate doses for at least 3 months (2 approximately 27 months).


70. Tehranchi R, Fadeel B, Schmidt-Mende J, Forsblom AM, Emanuelsson E, Jadersten M, Christensson B, Hast R, Howe RB, Samuelsson J, Zhivotovsky B, Hellström-Lindberg E: Antiapoptotic role of growth factors in the myelodysplastic syndromes: concordance between in vitro and in vivo observations. Clin Cancer Res; 2005 Sep 1;11(17):6291-9
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  • EXPERIMENTAL DESIGN: We enrolled 15 refractory anemia (RA) and 11 refractory anemia with ringed sideroblasts (RARS), including 5q- aberration, monosomy 7, and trisomy 8, before initiation of treatment and followed nine patients after successful treatment.
  • [MeSH-major] Anemia, Refractory / drug therapy. Anemia, Sideroblastic / drug therapy. Apoptosis / drug effects. Erythroid Precursor Cells / drug effects

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  • (PMID = 16144933.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Glycophorin; 0 / Receptors, Granulocyte Colony-Stimulating Factor; 0 / Recombinant Proteins; 11096-26-7 / Erythropoietin; 143011-72-7 / Granulocyte Colony-Stimulating Factor; 9007-43-6 / Cytochromes c; EC 3.4.22.- / Caspases
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71. Baratti MO, Moreira YB, Traina F, Costa FF, Verjovski-Almeida S, Olalla-Saad ST: Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts. BMC Med Genomics; 2010;3:30
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  • [Title] Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts.
  • METHODS: In this study, gene expression profiles of CD34+ cells of 4 patients with MDS of refractory anemia with ringed sideroblasts (RARS) subgroup and stromal cells of 3 patients with MDS-RARS were compared with healthy individuals using 44 k combined intron-exon oligoarrays, which included probes for exons of protein-coding genes, and for non-coding RNAs transcribed from intronic regions in either the sense or antisense strands.
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Antigens, CD34 / metabolism. Gene Expression Profiling. Gene Regulatory Networks. RNA, Untranslated / metabolism. Stromal Cells / metabolism


72. Gérard J, Dubois-Galopin F, Gardembas-Pain M, Defaux JB, Schmidt-Tanguy A, Godon A, Geneviève F, Blanchet O, Ifrah N, Zandecki M: [Refractory anaemia with ringed sideroblasts (RARS) associated with marked thrombocytosis: a provisional entity in the WHO classification of haematological malignancies]. Ann Biol Clin (Paris); 2005 Nov-Dec;63(6):653-9
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  • [Title] [Refractory anaemia with ringed sideroblasts (RARS) associated with marked thrombocytosis: a provisional entity in the WHO classification of haematological malignancies].
  • The WHO classification describes a group of myelodysplastic/myeloproliferative diseases, including a provisional entity, refractory anaemia with ringed sideroblasts (RARS) associated with marked thrombocytosis, underlining that is a provisional entity without consensus of belonging to myelodysplastic rather than to myeloproliferative syndromes.
  • The authors report two cases with features of refractory anaemia with excess of ringed sideroblasts and marked thrombocytosis.
  • The authors summed up the various situations related to secondary or primary acquired sideroblastic anaemia, likewise to primitive and reactive thrombocytosis.
  • The cases of RARS + marked thrombocytosis reported in the literature are few in number and do not allow to settle between a particular form of myelodysplastic syndrome and a myeloproliferative disorder, a fully justified reason to classify these patients in a temporary group.
  • [MeSH-major] Anemia, Sideroblastic / classification. Anemia, Sideroblastic / complications. Thrombocytosis / complications

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  • (PMID = 16330386.001).
  • [ISSN] 0003-3898
  • [Journal-full-title] Annales de biologie clinique
  • [ISO-abbreviation] Ann. Biol. Clin. (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Number-of-references] 11
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73. Flach J, Dicker F, Schnittger S, Kohlmann A, Haferlach T, Haferlach C: Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. Haematologica; 2010 Mar;95(3):518-9
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  • [Title] Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. DNA-Binding Proteins / genetics. Janus Kinase 2 / genetics. Mutation / genetics. Proto-Oncogene Proteins / genetics. Proto-Oncogene Proteins c-cbl / genetics. Thrombocytosis / genetics

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  • (PMID = 19903679.001).
  • [ISSN] 1592-8721
  • [Journal-full-title] Haematologica
  • [ISO-abbreviation] Haematologica
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Proto-Oncogene Proteins; 0 / TET2 protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2; EC 6.3.2.- / CBL protein, human; EC 6.3.2.- / Proto-Oncogene Proteins c-cbl
  • [Other-IDs] NLM/ PMC2833086
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74. Chen S, Jiang B, Da W, Gong M, Guan M: Treatment of myelodysplastic syndrome with cyclosporin A. Int J Hematol; 2007 Jan;85(1):11-7
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  • The FAB subtypes of the patients included refractory anemia, refractory anemia with ringed sideroblasts, and refractory anemia with excess blasts.
  • It was shown that the CsA therapy was effective in patients with refractory anemia or refractory anemia with excess blasts and both hypo- and hyperplastic bone marrows might respond to the therapy.
  • [MeSH-minor] Adolescent. Adult. Aged. Anemia, Refractory / drug therapy. Anemia, Refractory, with Excess of Blasts / drug therapy. Anemia, Sideroblastic / drug therapy. Bone Marrow / pathology. Child. Female. Humans. Male. Middle Aged. Remission Induction. Survival Rate. Treatment Outcome

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  • (PMID = 17261496.001).
  • [ISSN] 0925-5710
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
  • [Publication-country] Japan
  • [Chemical-registry-number] 83HN0GTJ6D / Cyclosporine
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75. Pich A, Godio L: Refractory anaemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) and JAK2(V617F) mutation transformed to acute myeloid leukaemia with chromosomal evolution including monosomy 7. Leuk Res; 2010 Feb;34(2):e69-70
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  • [Title] Refractory anaemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) and JAK2(V617F) mutation transformed to acute myeloid leukaemia with chromosomal evolution including monosomy 7.
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts / pathology. Cell Transformation, Neoplastic. Leukemia, Myeloid, Acute / etiology

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  • (PMID = 19744708.001).
  • [ISSN] 1873-5835
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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76. Kaminskas E, Farrell A, Abraham S, Baird A, Hsieh LS, Lee SL, Leighton JK, Patel H, Rahman A, Sridhara R, Wang YC, Pazdur R, FDA: Approval summary: azacitidine for treatment of myelodysplastic syndrome subtypes. Clin Cancer Res; 2005 May 15;11(10):3604-8
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  • Food and Drug Administration approved azacitidine as injectable suspension for treatment of patients with the following myelodysplastic syndrome subtypes: refractory anemia or refractory anemia with ringed sideroblasts (if accompanied by neutropenia or thrombocytopenia or requiring transfusions), refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and chronic myelomonocytic leukemia.

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  • (PMID = 15897554.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Clinical Trial; Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; M801H13NRU / Azacitidine
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77. Steensma DP, Caudill JS, Pardanani A, McClure RF, Lasho TL, Tefferi A: MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. Haematologica; 2006 Dec;91(12 Suppl):ECR57
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  • [Title] MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count.
  • [MeSH-major] Anemia, Refractory / genetics. Anemia, Sideroblastic / genetics. Janus Kinase 2 / genetics. Mutation, Missense. Point Mutation. Receptors, Thrombopoietin / genetics

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  • (PMID = 17194663.001).
  • [ISSN] 1592-8721
  • [Journal-full-title] Haematologica
  • [ISO-abbreviation] Haematologica
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / K12 CA90628
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / Receptors, Thrombopoietin; 143641-95-6 / MPL protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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78. Murphy PT, Quinn JP, O'Donghaile D, Swords R, O'Donnell JR: Myelodysplastic patients with raised percentage of hypochromic red cells have evidence of functional iron deficiency. Ann Hematol; 2006 Jul;85(7):455-7
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  • Raised percentage hypochromic red cells (%HRC) were detected at diagnosis in 10 of 34 consecutive patients with low-risk myelodysplastic syndrome (MDS) [refractory anemia (RA) (4/26) and RA with ring sideroblasts (6/8)], all of whom had normal or increased serum ferritin and bone marrow iron stores.
  • [MeSH-major] Anemia, Hypochromic / epidemiology. Anemia, Iron-Deficiency / epidemiology. Myelodysplastic Syndromes / blood

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  • (PMID = 16568320.001).
  • [ISSN] 0939-5555
  • [Journal-full-title] Annals of hematology
  • [ISO-abbreviation] Ann. Hematol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Transferrin; 9007-41-4 / C-Reactive Protein; 9007-73-2 / Ferritins; E1UOL152H7 / Iron; EC 1.1.1.27 / L-Lactate Dehydrogenase
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79. Xu LP, Huang XJ, Liu KY, Chen H, Liu DH, Han W, Chen YH, Gao ZY, Lu J, Wang JZ, Lu DP: [Allogenic stem cell transplantation from genotypically HLA-identical siblings for 30 patients with myelodysplastic syndromes]. Zhonghua Xue Ye Xue Za Zhi; 2006 Aug;27(8):518-21
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  • On HSCT, 4 patients had refractory anemia (RA) , 2 RA with ringed sideroblasts (RARS) , 7 RA with excess blasts(RAEB) , 14 RAEB in transformation (RAEB-t) , 3 already progressed to secondary AML.


80. Matthes T, Rustin P, Trachsel H, Darbellay R, Costaridou S, Xaidara A, Rideau A, Beris P: Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion. Eur J Haematol; 2006 Aug;77(2):169-74
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  • [Title] Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion.
  • Although we have evidence of mitochondrial gene alterations in sporadic congenital cases, the origin of acquired forms [refractory anemia with ring sideroblasts (RARS)], is still largely unknown.
  • [MeSH-major] Anemia, Sideroblastic / metabolism. Cytochrome-c Oxidase Deficiency / genetics. DNA, Mitochondrial / genetics. Electron Transport Complex IV / genetics. Gene Deletion. Iron / metabolism. Mitochondria / metabolism. Mitochondrial Myopathies / genetics. Mitochondrial Proton-Translocating ATPases / deficiency
  • [MeSH-minor] Acidosis / genetics. Adolescent. Anemia, Refractory / genetics. Bone Marrow / pathology. DNA Mutational Analysis. Disease Progression. Electron Transport. Fatal Outcome. Heterozygote. Humans. Male. Mosaicism. RNA, Transfer / genetics. beta-Thalassemia / genetics

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  • (PMID = 16856911.001).
  • [ISSN] 0902-4441
  • [Journal-full-title] European journal of haematology
  • [ISO-abbreviation] Eur. J. Haematol.
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / DNA, Mitochondrial; 9014-25-9 / RNA, Transfer; E1UOL152H7 / Iron; EC 1.9.3.1 / Electron Transport Complex IV; EC 3.6.1.- / ATP synthase subunit 6; EC 3.6.3.- / ATP synthase 8, human; EC 3.6.3.- / Mitochondrial Proton-Translocating ATPases
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81. Wang SA, Hasserjian RP, Loew JM, Sechman EV, Jones D, Hao S, Liu Q, Zhao W, Mehdi M, Galili N, Woda B, Raza A: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. Leukemia; 2006 Sep;20(9):1641-4
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  • [Title] Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features.
  • [MeSH-major] Anemia, Refractory / genetics. Mutation. Myelodysplastic Syndromes / genetics. Myeloproliferative Disorders / genetics. Protein-Tyrosine Kinases / genetics. Proto-Oncogene Proteins / genetics. Thrombocytosis / genetics

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  • (PMID = 16871284.001).
  • [ISSN] 0887-6924
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Proto-Oncogene Proteins; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
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82. Breccia M, Mengarelli A, Mancini M, Biondo F, Gentilini F, Latagliata R, Mandelli F, Alimena G: Myelodysplastic syndromes in patients under 50 years old: a single institution experience. Leuk Res; 2005 Jul;29(7):749-54
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  • According to FAB criteria there were 30 patients with refractory anaemia (RA), 3 with refractory anaemia with ringed sideroblasts (RARS), 18 with refractory anaemia with excess of blasts (RAEB), 6 with refractory anaemia with excess of blasts in transformation (RAEB-t) and 5 with chronic myelomonocytic leukaemia (CMML).
  • [MeSH-minor] Adult. Anemia / etiology. Anemia, Sideroblastic / etiology. Cell Transformation, Neoplastic. Female. Humans. Leukemia / etiology. Male. Middle Aged. Prognosis. Retrospective Studies. Survival Analysis


83. Bindi M, Moruzzo D, Pinelli M, Rosada J, Castiglioni M: [Celiac disease and myelodysplastic syndrome. A case report]. Recenti Prog Med; 2010 Apr;101(4):157-8
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  • [Transliterated title] Un paziente con malattia celiaca e sindrome mielodisplastica.
  • Celiac disease is an immune-mediated disorder induced by the intake of gluten proteins involving primarily the gastrointestinal tract.
  • Anaemia is a common finding in patients with celiac disease.
  • Later a macrocytic anaemia without vitamin B12 or folate deficiency appeared.
  • Hematologic tests showed findings consistent with refractory anemia with ring sideroblasts.
  • It raises the hypothesis of a primitive immunological disorder in both diseases.


84. Wulfert M, Küpper AC, Tapprich C, Bottomley SS, Bowen D, Germing U, Haas R, Gattermann N: Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. Exp Hematol; 2008 May;36(5):577-86
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  • MATERIALS AND METHODS: Analysis included 104 patients with MDS (24 refractory anemia, 32 refractory anemia with ringed sideroblasts, 34 refractory anemia with excess of blasts, 7 refractory anemia with excess of blasts in transformation to acute leukemia, and 7 chronic myelo-monocytic leukemia), 3 patients with acute myeloid leukemia from MDS, and 36 patients with myeloproliferative disease (23 chronic myeloid leukemia, 9 polycythemia vera, 4 idiopathic myelofibrosis).


85. Stride M, Baqai T, Jawad AS: Hook sign and arthritis in refractory anaemia with ringed sideroblasts (myelodysplastic syndrome). Rheumatology (Oxford); 2009 Mar;48(3):320-1
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  • [Title] Hook sign and arthritis in refractory anaemia with ringed sideroblasts (myelodysplastic syndrome).
  • [MeSH-major] Anemia, Refractory / complications. Anemia, Sideroblastic / complications. Arthritis / etiology


86. Tehranchi R, Invernizzi R, Grandien A, Zhivotovsky B, Fadeel B, Forsblom AM, Travaglino E, Samuelsson J, Hast R, Nilsson L, Cazzola M, Wibom R, Hellström-Lindberg E: Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes. Blood; 2005 Jul 1;106(1):247-53
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  • Early erythroblasts from patients with refractory anemia (RA) and RA with ringed sideroblasts (RARS) show constitutive mitochondrial release of cytochrome c.
  • Whereas none or few cultured erythroid cells from healthy individuals and RA patients expressed MtF, those from RARS patients showed MtF expression at an early stage, when cells were CD34+ and without morphologic signs of erythroid differentiation.
  • [MeSH-minor] Adenosine Triphosphate / metabolism. Anemia, Sideroblastic / metabolism. Anemia, Sideroblastic / pathology. Apoptosis. BH3 Interacting Domain Death Agonist Protein. Carrier Proteins / genetics. Cytochromes c / genetics. Cytochromes c / metabolism. DNA-Binding Proteins / genetics. Erythroblasts / metabolism. Erythroblasts / pathology. Erythroid-Specific DNA-Binding Factors. Ferritins / metabolism. GATA1 Transcription Factor. Gene Expression / drug effects. Gene Expression / physiology. Glycoproteins / genetics. Granulocyte Colony-Stimulating Factor / pharmacology. Hemoglobins / genetics. Humans. Proto-Oncogene Proteins c-bcl-2 / genetics. RNA, Messenger / analysis. Risk Factors. Transcription Factors / genetics. bcl-2-Associated X Protein

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  • (PMID = 15755901.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / BAX protein, human; 0 / BH3 Interacting Domain Death Agonist Protein; 0 / BID protein, human; 0 / Carrier Proteins; 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Glycoproteins; 0 / Hemoglobins; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / RNA, Messenger; 0 / Transcription Factors; 0 / bcl-2-Associated X Protein; 143011-72-7 / Granulocyte Colony-Stimulating Factor; 8L70Q75FXE / Adenosine Triphosphate; 9007-43-6 / Cytochromes c; 9007-73-2 / Ferritins; 9041-75-2 / hemoglobin B; E1UOL152H7 / Iron
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87. Ma L, Ceuppens J, Kasran A, Delforge M, Boogaerts M, Vandenberghe P: Immature and mature monocyte-derived dendritic cells in myelodysplastic syndromes of subtypes refractory anemia or refractory anemia with ringed sideroblasts display an altered cytokine profile. Leuk Res; 2007 Oct;31(10):1373-82
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  • [Title] Immature and mature monocyte-derived dendritic cells in myelodysplastic syndromes of subtypes refractory anemia or refractory anemia with ringed sideroblasts display an altered cytokine profile.
  • We investigated the early and terminal maturation of monocyte-derived DC (MoDC) in myelodysplastic syndromes (FAB subtypes refractory anemia (MDS-RA) or refractory anemia with ringed sideroblasts (MDS-RARS)).
  • [MeSH-major] Anemia, Refractory / immunology. Anemia, Sideroblastic / immunology. Cytokines / biosynthesis. Dendritic Cells / immunology. Monocytes / immunology


88. Wimazal F, Krauth MT, Vales A, Böhm A, Agis H, Sonneck K, Aichberger KJ, Mayerhofer M, Simonitsch-Klupp I, Müllauer L, Sperr WR, Valent P: Immunohistochemical detection of vascular endothelial growth factor (VEGF) in the bone marrow in patients with myelodysplastic syndromes: correlation between VEGF expression and the FAB category. Leuk Lymphoma; 2006 Mar;47(3):451-60
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  • We examined the expression of VEGF in paraffin-embedded bone marrow sections obtained from normal donors (n = 5) and 46 patients with myelodysplastic syndromes [MDS, French-American-British (FAB)-type refractory anemia (RA), n = 10; refractory anemia with ringed sideroblasts (RARS), n = 10; refractory anemia with excess blasts (RAEB), n = 10; RAEB in transformation (RAEB-T), n = 8; chronic myelomonocytic leukemia (CMML), n = 8] by immunohistochemistry using an anti-VEGF antibody.
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Anemia, Refractory, with Excess of Blasts / metabolism. Anemia, Refractory, with Excess of Blasts / pathology. Female. Humans. Immunohistochemistry. Male. Middle Aged. Neovascularization, Pathologic / metabolism. Neovascularization, Pathologic / pathology. Predictive Value of Tests. RNA, Messenger / genetics. RNA, Messenger / metabolism. Receptors, Vascular Endothelial Growth Factor / antagonists & inhibitors. Receptors, Vascular Endothelial Growth Factor / genetics. Receptors, Vascular Endothelial Growth Factor / metabolism

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  • [CommentIn] Leuk Lymphoma. 2006 Mar;47(3):377-8 [16396758.001]
  • (PMID = 16396768.001).
  • [ISSN] 1042-8194
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / RNA, Messenger; 0 / Vascular Endothelial Growth Factors; EC 2.7.10.1 / Receptors, Vascular Endothelial Growth Factor
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89. Hamdi W, Ogawara H, Handa H, Tsukamoto N, Murakami H: Clinical significance of Th1/Th2 ratio in patients with myelodysplastic syndrome. Int J Lab Hematol; 2009 Dec;31(6):630-8
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  • In this study, we attempted to evaluate the clinical significance of T helper 1 (Th1)/T helper 2 (Th2) ratio in patients with myelodysplastic syndrome (MDS), five refractory anaemia (RA), four refractory anaemia with ringed sideroblasts (RARS), 31 refractory cytopenia with multilineage dysplasia (RCMD), nine refractory anaemia with excess blast-1 (RAEB-1) and seven refractory anaemia with excess blast-2 (RAEB-2).
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Anemia, Refractory / immunology. Anemia, Sideroblastic / immunology. CD4-CD8 Ratio. CD4-Positive T-Lymphocytes / immunology. CD8-Positive T-Lymphocytes / immunology. Female. Humans. Interferon-gamma. Interleukin-4 / biosynthesis. Male. Middle Aged


90. Matsuda A, Germing U, Jinnai I, Misumi M, Kuendgen A, Knipp S, Aivado M, Iwanaga M, Miyazaki Y, Tsushima H, Sakai M, Bessho M, Tomonaga M: Difference in clinical features between Japanese and German patients with refractory anemia in myelodysplastic syndromes. Blood; 2005 Oct 15;106(8):2633-40
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  • [Title] Difference in clinical features between Japanese and German patients with refractory anemia in myelodysplastic syndromes.
  • We analyzed refractory anemia (RA) in French-American-British (FAB) classification cases diagnosed in Japan and Germany to perform a more exact comparison between Asian and Western MDS types.
  • In the first step, we analyzed agreement of morphologic diagnosis between Japanese and German hematologists.
  • Blood and bone marrow slides of 129 patients diagnosed with FAB-RA, FAB-RA with ringed sideroblasts (RARS), or aplastic anemia were selected randomly and evaluated separately by each group.
  • [MeSH-major] Anemia, Refractory / ethnology. Anemia, Refractory / pathology. Myelodysplastic Syndromes / ethnology. Myelodysplastic Syndromes / pathology


91. Ji O, Shen Q, Lin L, Zhang YC, Ji JM, Wu Y, Chen JY, Zhu GR, Kong XT, Xia W, Jiang PJ: [Clinical and biological features in refractory anemia with ringed sideroblasts with fluctuant platelet counts]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2010 Aug;18(4):1036-41
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  • [Title] [Clinical and biological features in refractory anemia with ringed sideroblasts with fluctuant platelet counts].
  • The objective of this study was to explore the differences between refractory anemia with ringed sideroblast (RARS) and RARS associated with marked thrombocytosis (RARS-T) in the clinical, biological features and prognosis.

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  • (PMID = 20723324.001).
  • [ISSN] 1009-2137
  • [Journal-full-title] Zhongguo shi yan xue ye xue za zhi
  • [ISO-abbreviation] Zhongguo Shi Yan Xue Ye Xue Za Zhi
  • [Language] CHI
  • [Publication-type] Case Reports; English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
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92. Chee CE, Steensma DP, Wu W, Hanson CA, Tefferi A: Neither serum ferritin nor the number of red blood cell transfusions affect overall survival in refractory anemia with ringed sideroblasts. Am J Hematol; 2008 Aug;83(8):611-3
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  • [Title] Neither serum ferritin nor the number of red blood cell transfusions affect overall survival in refractory anemia with ringed sideroblasts.
  • In a retrospective study of 126 adult patients with French-American-British-defined refractory anemia with ringed sideroblasts (RARS), staging by the International Prognostic Scoring System was highly predictive of survival outcome (P < 0.0001).
  • [MeSH-major] Anemia, Sideroblastic / diagnosis. Anemia, Sideroblastic / mortality. Erythrocyte Transfusion. Ferritins / blood

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  • [Copyright] Copyright 2008 Wiley-Liss, Inc.
  • (PMID = 18442062.001).
  • [ISSN] 1096-8652
  • [Journal-full-title] American journal of hematology
  • [ISO-abbreviation] Am. J. Hematol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 9007-73-2 / Ferritins
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93. Kaiafa G, Papadopoulos A, Ntaios G, Saouli Z, Savopoulos C, Tsesmeli N, Kontoninas Z, Chatzinikolaou A, Tsavdaridou V, Klonizakis I, Hatzitolios A: Detection of CD55- and CD59-deficient granulocytic populations in patients with myelodysplastic syndrome. Ann Hematol; 2008 Apr;87(4):257-62
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  • We studied 90 MDS patients: 19 patients with RA, 15 with refractory anemia with ringed sideroblasts (RARS), 18 with refractory anemia with excess of blasts (RAEB), 17 with refractory anemia with excess of blasts in transformation (RAEB-t), and 21 with chronic myelomonocytic leukemia (CMML).
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts / blood. Antigens, CD55 / blood. Antigens, CD59 / blood. Granulocytes / immunology. Hemoglobinuria, Paroxysmal / blood. Myelodysplastic Syndromes / blood


94. Schmitt-Graeff AH: [Chronic myeloid neoplasms. Diagnostic criteria and current therapeutic concepts]. Pathologe; 2010 Feb;31(1):29-41
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  • Myelodysplastic/MPN overlap syndromes include rare entities such as refractory anemia with ringed sideroblasts characterized by a high proportion of JAK2V617F mutated cases.


95. Szpurka H, Jankowska AM, Makishima H, Bodo J, Bejanyan N, Hsi ED, Sekeres MA, Maciejewski JP: Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations. Leuk Res; 2010 Aug;34(8):969-73
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  • While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative cases constitute a diagnostic problem.

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  • [Copyright] Copyright (c) 2010 Elsevier Ltd. All rights reserved.
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  • (PMID = 20334914.001).
  • [ISSN] 1873-5835
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] ENG
  • [Grant] None / None / / R01 HL082983-04; United States / NHLBI NIH HHS / HL / K24 HL077522; None / None / / U54 RR019397-05S1; United States / NHLBI NIH HHS / HL / R01 HL082983; United States / NCRR NIH HHS / RR / U54 RR019397-05S1; United States / NCRR NIH HHS / RR / U54RR019391; United States / NHLBI NIH HHS / HL / K24 HL077522-07; United States / NCRR NIH HHS / RR / U54 RR019397; United States / NHLBI NIH HHS / HL / HL077522-07; United States / NHLBI NIH HHS / HL / R01 HL082983-04; United States / NCRR NIH HHS / RR / S10 RR019391
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / ASXL1 protein, human; 0 / DNA-Binding Proteins; 0 / Proto-Oncogene Proteins; 0 / Repressor Proteins; 0 / TET2 protein, human
  • [Other-IDs] NLM/ NIHMS191932; NLM/ PMC2953471
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96. Gotlib J, Lavori P, Quesada S, Stein RS, Shahnia S, Greenberg PL: A Phase II intra-patient dose-escalation trial of weight-based darbepoetin alfa with or without granulocyte-colony stimulating factor in myelodysplastic syndromes. Am J Hematol; 2009 Jan;84(1):15-20
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  • Patients with refractory anemia with ringed sideroblasts (RARS) commenced DA at 9 mcg/kg/week.

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  • (PMID = 19006226.001).
  • [ISSN] 1096-8652
  • [Journal-full-title] American journal of hematology
  • [ISO-abbreviation] Am. J. Hematol.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / K23 HL004409; United States / NCI NIH HHS / CA / P30 CA124435; United States / NHLBI NIH HHS / HL / K23 HL04409
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hematinics; 11096-26-7 / Erythropoietin; 143011-72-7 / Granulocyte Colony-Stimulating Factor; 15UQ94PT4P / Darbepoetin alfa
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97. Ehsan A, Aziz M: Clinico-haematological characteristics in Pakistani patients of primary myelodysplastic syndrome according to World Health Organization classification. J Coll Physicians Surg Pak; 2010 Apr;20(4):232-6
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  • According to the WHO classification, 12 cases of refractory anaemia, 24 cases of refractory cytopenia with multi lineage dysplasia, 1 case of refractory cytopenia with multi lineage dysplasia and ring sideroblasts, 3 cases of MDS unclassified and 3 cases each of refractory anaemia with excess of blasts I and II were diagnosed.
  • Symptomatic anaemia was seen in 37 cases and pancytopenia was documented in 33 cases.
  • Refractory cytopenia with multi lineage dysplasia was the dominant disease category.
  • [MeSH-minor] Adolescent. Adult. Anemia, Refractory, with Excess of Blasts / blood. Anemia, Refractory, with Excess of Blasts / epidemiology. Anemia, Refractory, with Excess of Blasts / pathology. Anemia, Sideroblastic / blood. Anemia, Sideroblastic / epidemiology. Anemia, Sideroblastic / pathology. Child. Cohort Studies. Female. Hemoglobins / analysis. Humans. Leukocytes. Male. Middle Aged. Pakistan / epidemiology. Platelet Count. World Health Organization. Young Adult


98. D'Angelo G: Refractory anemia with ringed sideroblasts and chronic myelomonocytic leukemia: myelodysplastic/myeloproliferative disease. Lab Hematol; 2005;11(3):171-3
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  • [Title] Refractory anemia with ringed sideroblasts and chronic myelomonocytic leukemia: myelodysplastic/myeloproliferative disease.
  • Here is reported the case of an elderly woman that, after surgical intervention, showed an important anemia, leucocytosis and thrombocytopenia.
  • The morphological appearances, both peripheral blood and bone marrow, showed an evident overlapping of myelodysplastic and myeloproliferative picture, characterized from the presence of refractory anemia with ringed sideroblasts (RARS) and chronic myelomonocytic leukemia (CMML).
  • [MeSH-major] Anemia, Refractory / pathology. Anemia, Sideroblastic / metabolism. Bone Marrow Cells / pathology. Leukemia, Myelomonocytic, Chronic / metabolism


99. Shaw GR: Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults. Br J Haematol; 2005 Oct;131(2):180-4
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  • [Title] Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults.
  • Sideroblastic anaemia with ringed sideroblasts and marked thrombocytosis, hereupon referred to as ringed sideroblasts with thrombocytosis (RST), is a provisional entity in the 2001 World Health Organisation classification scheme.
  • Proposed diagnostic criteria include a sustained platelet count > 500 x 10(9)/l, > or = 15% ringed sideroblasts, < 3% bone marrow blasts, and normal conventional cytogenetics.
  • With a median follow-up of 41 months, RST patients had a median overall survival of 71 months, comparable with refractory anaemia having ringed sideroblasts, but less favourable than essential thrombocythaemia.
  • Patients with ringed sideroblasts and/or thrombocytosis need to be carefully evaluated for a variety of haematological diseases that may confer significantly different prognoses.
  • [MeSH-major] Anemia, Sideroblastic / classification. Myelodysplastic Syndromes / classification. Myeloproliferative Disorders / classification. Thrombocytosis / classification


100. Gangat N, Porcher JC, Steensma DP: Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS). Leuk Res; 2009 Apr;33(4):586-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS).
  • [MeSH-major] Anemia, Refractory, with Excess of Blasts / genetics. Anemia, Sideroblastic / genetics. Iron-Binding Proteins / genetics

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  • (PMID = 18687468.001).
  • [ISSN] 1873-5835
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Iron-Binding Proteins; 0 / frataxin
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