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Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia

MedGen UID:
1378167
•Concept ID:
C4330726
•
Neoplastic Process
Synonyms: Myelodysplastic neoplasm with low blasts and SF3B1 mutation; Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia
SNOMED CT: Myelodysplastic neoplasm with low blasts and SF3B1 mutation (1251598004); Myelodysplastic neoplasm with low blasts and SF3B1 mutation (1260217004); Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia (1260217004)

Definition

A myelodysplastic syndrome with ring sideroblasts and dysplastic changes involving only one myeloid cell lineage in the bone marrow. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia

Recent clinical studies

Etiology

Clinico-genetic and prognostic analyses of 716 patients with primary myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia based on the 2022 International Consensus Classification.
Lee WH, Lin CC, Tsai CH, Tien FM, Lo MY, Ni SC, Yao M, Tseng MH, Kuo YY, Liu MC, Tang JL, Sun HI, Chuang YK, Chou WC, Hou HA, Tien HF
Am J Hematol 2023 Mar;98(3):398-407. Epub 2023 Jan 1 doi: 10.1002/ajh.26799. PMID: 36588411
Impact of the International Consensus Classification of myelodysplastic syndromes.
Zhang Y, Wu J, Xu Z, Qin T, Qu S, Pan L, Wang H, Sun Q, Li C, Jia Y, Cai W, Yan X, Gong J, Gao Q, Li B, Gale RP, Xiao Z
Br J Haematol 2023 May;201(3):443-448. Epub 2022 Dec 28 doi: 10.1111/bjh.18628. PMID: 36575970
Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.
AlMozain N, Mashi A, Alneami Q, Al-Omran A, Bakshi N, Owaidah T, Khalil S, Khogeer H, Hashmi S, Al-Sweedan S, Morris T, AlNounou R
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):39-44. doi: 10.1016/j.hemonc.2020.11.001. PMID: 33227261
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Changes in the Updated 2016: WHO Classification of the Myelodysplastic Syndromes and Related Myeloid Neoplasms.
Bennett JM
Clin Lymphoma Myeloma Leuk 2016 Nov;16(11):607-609. Epub 2016 Aug 12 doi: 10.1016/j.clml.2016.08.005. PMID: 27693133

Diagnosis

Clinico-genetic and prognostic analyses of 716 patients with primary myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia based on the 2022 International Consensus Classification.
Lee WH, Lin CC, Tsai CH, Tien FM, Lo MY, Ni SC, Yao M, Tseng MH, Kuo YY, Liu MC, Tang JL, Sun HI, Chuang YK, Chou WC, Hou HA, Tien HF
Am J Hematol 2023 Mar;98(3):398-407. Epub 2023 Jan 1 doi: 10.1002/ajh.26799. PMID: 36588411
Impact of the International Consensus Classification of myelodysplastic syndromes.
Zhang Y, Wu J, Xu Z, Qin T, Qu S, Pan L, Wang H, Sun Q, Li C, Jia Y, Cai W, Yan X, Gong J, Gao Q, Li B, Gale RP, Xiao Z
Br J Haematol 2023 May;201(3):443-448. Epub 2022 Dec 28 doi: 10.1111/bjh.18628. PMID: 36575970
Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.
AlMozain N, Mashi A, Alneami Q, Al-Omran A, Bakshi N, Owaidah T, Khalil S, Khogeer H, Hashmi S, Al-Sweedan S, Morris T, AlNounou R
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):39-44. doi: 10.1016/j.hemonc.2020.11.001. PMID: 33227261
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification.
Font P, Loscertales J, Benavente C, Bermejo A, Callejas M, Garcia-Alonso L, Garcia-Marcilla A, Gil S, Lopez-Rubio M, Martin E, Muñoz C, Ricard P, Soto C, Balsalobre P, Villegas A
Ann Hematol 2013 Jan;92(1):19-24. Epub 2012 Sep 5 doi: 10.1007/s00277-012-1565-4. PMID: 22948274

Therapy

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785

Prognosis

Clinico-genetic and prognostic analyses of 716 patients with primary myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia based on the 2022 International Consensus Classification.
Lee WH, Lin CC, Tsai CH, Tien FM, Lo MY, Ni SC, Yao M, Tseng MH, Kuo YY, Liu MC, Tang JL, Sun HI, Chuang YK, Chou WC, Hou HA, Tien HF
Am J Hematol 2023 Mar;98(3):398-407. Epub 2023 Jan 1 doi: 10.1002/ajh.26799. PMID: 36588411
Impact of the International Consensus Classification of myelodysplastic syndromes.
Zhang Y, Wu J, Xu Z, Qin T, Qu S, Pan L, Wang H, Sun Q, Li C, Jia Y, Cai W, Yan X, Gong J, Gao Q, Li B, Gale RP, Xiao Z
Br J Haematol 2023 May;201(3):443-448. Epub 2022 Dec 28 doi: 10.1111/bjh.18628. PMID: 36575970
Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.
AlMozain N, Mashi A, Alneami Q, Al-Omran A, Bakshi N, Owaidah T, Khalil S, Khogeer H, Hashmi S, Al-Sweedan S, Morris T, AlNounou R
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):39-44. doi: 10.1016/j.hemonc.2020.11.001. PMID: 33227261
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification.
Font P, Loscertales J, Benavente C, Bermejo A, Callejas M, Garcia-Alonso L, Garcia-Marcilla A, Gil S, Lopez-Rubio M, Martin E, Muñoz C, Ricard P, Soto C, Balsalobre P, Villegas A
Ann Hematol 2013 Jan;92(1):19-24. Epub 2012 Sep 5 doi: 10.1007/s00277-012-1565-4. PMID: 22948274

Clinical prediction guides

Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.
AlMozain N, Mashi A, Alneami Q, Al-Omran A, Bakshi N, Owaidah T, Khalil S, Khogeer H, Hashmi S, Al-Sweedan S, Morris T, AlNounou R
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):39-44. doi: 10.1016/j.hemonc.2020.11.001. PMID: 33227261
Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification.
Font P, Loscertales J, Benavente C, Bermejo A, Callejas M, Garcia-Alonso L, Garcia-Marcilla A, Gil S, Lopez-Rubio M, Martin E, Muñoz C, Ricard P, Soto C, Balsalobre P, Villegas A
Ann Hematol 2013 Jan;92(1):19-24. Epub 2012 Sep 5 doi: 10.1007/s00277-012-1565-4. PMID: 22948274

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