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Myelodysplastic syndrome(MDS)

MedGen UID:
483005
Concept ID:
C3463824
Neoplastic Process
Synonyms: MDS; Myelodysplastic syndrome, somatic; MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic Syndrome, Susceptibility, GATA2-Related; Myelodysplastic syndromes
SNOMED CT: Myelodysplastic syndrome (128623006); MDS - Myelodysplastic syndrome (109995007); Dysmyelopoietic syndrome (128623006); Myelodysplastic syndrome (clinical) (109995007); Myelodysplastic syndrome (109995007); Myelodysplastic neoplasm (128623006)
 
Genes (locations): ASXL1 (20q11.21); GATA2 (3q21.3); GNB1 (1p36.33); SF3B1 (2q33.1); TET2 (4q24)
 
Monarch Initiative: MONDO:0018881
OMIM®: 614286
Orphanet: ORPHA52688

Definition

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from OMIM]

Clinical features

From HPO
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome

Professional guidelines

PubMed

Bazinet A, Bravo GM
Curr Treat Options Oncol 2022 May;23(5):668-687. Epub 2022 Mar 23 doi: 10.1007/s11864-022-00965-1. PMID: 35320468
Ullmann AJ, Aguado JM, Arikan-Akdagli S, Denning DW, Groll AH, Lagrou K, Lass-Flörl C, Lewis RE, Munoz P, Verweij PE, Warris A, Ader F, Akova M, Arendrup MC, Barnes RA, Beigelman-Aubry C, Blot S, Bouza E, Brüggemann RJM, Buchheidt D, Cadranel J, Castagnola E, Chakrabarti A, Cuenca-Estrella M, Dimopoulos G, Fortun J, Gangneux JP, Garbino J, Heinz WJ, Herbrecht R, Heussel CP, Kibbler CC, Klimko N, Kullberg BJ, Lange C, Lehrnbecher T, Löffler J, Lortholary O, Maertens J, Marchetti O, Meis JF, Pagano L, Ribaud P, Richardson M, Roilides E, Ruhnke M, Sanguinetti M, Sheppard DC, Sinkó J, Skiada A, Vehreschild MJGT, Viscoli C, Cornely OA
Clin Microbiol Infect 2018 May;24 Suppl 1:e1-e38. Epub 2018 Mar 12 doi: 10.1016/j.cmi.2018.01.002. PMID: 29544767
Stauder R, Valent P, Theurl I
Blood 2018 Feb 1;131(5):505-514. Epub 2017 Nov 15 doi: 10.1182/blood-2017-07-746446. PMID: 29141943

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024

Recent clinical studies

Etiology

Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Jain AG, Zhang L, Bennett JM, Komrokji R
Ann Lab Med 2022 May 1;42(3):299-305. doi: 10.3343/alm.2022.42.3.299. PMID: 34907099Free PMC Article
Lee P, Yim R, Yung Y, Chu HT, Yip PK, Gill H
Int J Mol Sci 2021 Sep 23;22(19) doi: 10.3390/ijms221910232. PMID: 34638574Free PMC Article
Hasserjian RP
Pathobiology 2019;86(1):7-13. Epub 2018 Jul 24 doi: 10.1159/000489702. PMID: 30041243
Haferlach T
Pathobiology 2019;86(1):24-29. Epub 2018 May 23 doi: 10.1159/000488712. PMID: 29791902

Diagnosis

Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Jain AG, Zhang L, Bennett JM, Komrokji R
Ann Lab Med 2022 May 1;42(3):299-305. doi: 10.3343/alm.2022.42.3.299. PMID: 34907099Free PMC Article
Patel SS
Clin Lab Med 2021 Sep;41(3):517-528. Epub 2021 Jun 24 doi: 10.1016/j.cll.2021.03.015. PMID: 34304779
Hasserjian RP
Pathobiology 2019;86(1):7-13. Epub 2018 Jul 24 doi: 10.1159/000489702. PMID: 30041243
Haferlach T
Pathobiology 2019;86(1):24-29. Epub 2018 May 23 doi: 10.1159/000488712. PMID: 29791902

Therapy

Jiang Z, Sun H, Yu J, Tian W, Song Y
J Hematol Oncol 2021 Oct 30;14(1):180. doi: 10.1186/s13045-021-01197-w. PMID: 34717705Free PMC Article
Jurcic JG
J Med Imaging Radiat Sci 2019 Dec;50(4 Suppl 1):S53-S57. Epub 2019 Jun 25 doi: 10.1016/j.jmir.2019.05.008. PMID: 31253514
Maertens JA, Girmenia C, Brüggemann RJ, Duarte RF, Kibbler CC, Ljungman P, Racil Z, Ribaud P, Slavin MA, Cornely OA, Peter Donnelly J, Cordonnier C; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and; European Conference on Infections in Leukaemia (ECIL), a joint venture of the European Group for Blood and Marrow Transplantation (EBMT), the European Organization for Research and Treatment of Cancer (EORTC), the Immunocompromised Host Society (ICHS) and the European LeukemiaNet (ELN)
J Antimicrob Chemother 2018 Dec 1;73(12):3221-3230. doi: 10.1093/jac/dky286. PMID: 30085172
Mellinghoff SC, Panse J, Alakel N, Behre G, Buchheidt D, Christopeit M, Hasenkamp J, Kiehl M, Koldehoff M, Krause SW, Lehners N, von Lilienfeld-Toal M, Löhnert AY, Maschmeyer G, Teschner D, Ullmann AJ, Penack O, Ruhnke M, Mayer K, Ostermann H, Wolf HH, Cornely OA
Ann Hematol 2018 Feb;97(2):197-207. Epub 2017 Dec 7 doi: 10.1007/s00277-017-3196-2. PMID: 29218389Free PMC Article
Coleman RL, Brady MF, Herzog TJ, Sabbatini P, Armstrong DK, Walker JL, Kim BG, Fujiwara K, Tewari KS, O'Malley DM, Davidson SA, Rubin SC, DiSilvestro P, Basen-Engquist K, Huang H, Chan JK, Spirtos NM, Ashfaq R, Mannel RS
Lancet Oncol 2017 Jun;18(6):779-791. Epub 2017 Apr 21 doi: 10.1016/S1470-2045(17)30279-6. PMID: 28438473Free PMC Article

Prognosis

Strosberg JR, Caplin ME, Kunz PL, Ruszniewski PB, Bodei L, Hendifar A, Mittra E, Wolin EM, Yao JC, Pavel ME, Grande E, Van Cutsem E, Seregni E, Duarte H, Gericke G, Bartalotta A, Mariani MF, Demange A, Mutevelic S, Krenning EP; NETTER-1 investigators
Lancet Oncol 2021 Dec;22(12):1752-1763. Epub 2021 Nov 15 doi: 10.1016/S1470-2045(21)00572-6. PMID: 34793718
Zeidan AM, Shallis RM, Wang R, Davidoff A, Ma X
Blood Rev 2019 Mar;34:1-15. Epub 2018 Sep 21 doi: 10.1016/j.blre.2018.09.001. PMID: 30314642
Grignano E, Jachiet V, Fenaux P, Ades L, Fain O, Mekinian A
Ann Hematol 2018 Nov;97(11):2015-2023. Epub 2018 Aug 8 doi: 10.1007/s00277-018-3472-9. PMID: 30091023
Yang Z, Mei-Ying L, Shan-Mi W, Xiao-Hui Z
J Matern Fetal Neonatal Med 2015;28(18):2155-9. Epub 2014 Nov 14 doi: 10.3109/14767058.2014.980229. PMID: 25354291
Dansey R
Curr Opin Oncol 2000 Jan;12(1):13-21. doi: 10.1097/00001622-200001000-00003. PMID: 10687724

Clinical prediction guides

Jain AG, Zhang L, Bennett JM, Komrokji R
Ann Lab Med 2022 May 1;42(3):299-305. doi: 10.3343/alm.2022.42.3.299. PMID: 34907099Free PMC Article
Fenaux P, Platzbecker U, Ades L
Br J Haematol 2020 Jun;189(6):1016-1027. Epub 2019 Sep 30 doi: 10.1111/bjh.16206. PMID: 31568568
Chokr N, Pine AB, Bewersdorf JP, Shallis RM, Stahl M, Zeidan AM
Expert Rev Hematol 2019 Apr;12(4):215-224. Epub 2019 Apr 12 doi: 10.1080/17474086.2019.1592673. PMID: 30977414Free PMC Article
Haferlach T
Pathobiology 2019;86(1):24-29. Epub 2018 May 23 doi: 10.1159/000488712. PMID: 29791902
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072

Recent systematic reviews

Boyadzhieva Z, Ruffer N, Kötter I, Krusche M
Rheumatology (Oxford) 2023 Nov 2;62(11):3518-3525. doi: 10.1093/rheumatology/kead240. PMID: 37233149
Du Y, Li C, Yan J
Hematology 2023 Dec;28(1):2198098. doi: 10.1080/16078454.2023.2198098. PMID: 37036307
Sweeney MR, Applebaum KM, Arem H, Braffett BH, Poynter JN, Robien K
Cancer Epidemiol Biomarkers Prev 2019 Sep;28(9):1502-1517. Epub 2019 Jun 18 doi: 10.1158/1055-9965.EPI-19-0106. PMID: 31213463
Park S, Fenaux P, Greenberg P, Mehta B, Callaghan F, Kim C, Tomita D, Xu H
Br J Haematol 2016 Sep;174(5):730-47. Epub 2016 May 23 doi: 10.1111/bjh.14116. PMID: 27214305Free PMC Article
Dahabreh IJ, Giannouli S, Gota V, Voulgarelis M
Int J Cancer 2010 Apr 1;126(7):1716-23. doi: 10.1002/ijc.24940. PMID: 19816935

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024

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