Myelodysplastic syndrome

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 26 Sep 2025

Last updated: 31 Jan 2025

Myelodysplastic syndrome or myelodysplastic neoplasm (MDS) is primarily a disease of older adults. It is often diagnosed incidentally in asymptomatic patients. Some patients present with symptoms of anemia, leukopenia, and thrombocytopenia.

Diagnosis is confirmed if blood and bone marrow evaluation reveals cytopenias, morphologic dysplasia, clonal cytogenetic abnormalities or molecular mutations, and blasts (classically <20%).

Supportive care is central to management and includes: red blood cell (RBC) transfusions with iron chelation support (for anemia); platelet transfusions (for thrombocytopenia and bleeding); and anti-infective therapy (e.g., antibiotics).

Treatment is guided by risk assessment, disease type/characteristics, symptoms/severity of cytopenias, and erythropoietin levels. Treatment includes drug therapy (e.g., lenalidomide, erythropoiesis-stimulating agents, hypomethylating agents, luspatercept, imetelstat, immunosuppressive therapy [antithymocyte globulin], ivosidenib) and allogeneic stem cell transplantation (for select patients e.g., those with high-risk disease).

Patients may have a prolonged disease course (i.e., with anemia, thrombocytopenia, neutropenia), or may progress rapidly to acute myeloid leukemia (AML). Most deaths occur due to complications from MDS (e.g., infection) before progression to AML.

Definition

MDS is a heterogenous group of clonal hematopoietic neoplasms characterized by cytopenias (anemia, neutropenia, and/or thrombocytopenia); significant bone marrow dysplasia; blasts in the peripheral blood and/or bone marrow (classically <20%); cytogenetic/genetic abnormalities (e.g., 5q deletion, SF3B1 mutation, TP53 mutation); and a predilection to progress to AML.[1][2]

MDS can arise de novo or occur secondary to antecedent hematologic malignancy or following exposure to chemotherapy or radiation therapy.[3]

História e exame físico

Principais fatores diagnósticos

older age
fatigue
exercise intolerance
pallor
bruising or bleeding
prior chemotherapy and/or radiation therapy
congenital disorder
bacterial infections

Detalhes completos

Outros fatores diagnósticos

autoimmune disorders
splenomegaly
hepatomegaly
lymphadenopathy

Detalhes completos

Fatores de risco

age >70 years
prior chemotherapy
prior radiation therapy
prior autologous hematopoietic stem cell transplantation
congenital disorders
tobacco
benzene
aplastic anemia
paroxysmal nocturnal hemoglobinuria (PNH)

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

CBC with differential
peripheral blood smear
reticulocyte count
red blood cell folate
serum vitamin B12
iron studies
bone marrow aspiration with iron stain
bone marrow core biopsy
genetic testing

Detalhes completos

Tests to avoid

fluorescence in situ hybridization (FISH)

Detalhes completos

Investigações a serem consideradas

viral serology
serum erythropoietin
lactate dehydrogenase
HLA typing
flow cytometry

Detalhes completos

Algoritmo de tratamento

AGUDA

lower-risk disease: asymptomatic

lower-risk disease: MDS-5q (del(5q) ± one other cytogenetic abnormality except those involving chromosome 7) with symptomatic anemia

lower-risk disease: MDS-SF3B1 (no del(5q) ± other cytogenetic abnormalities with ring sideroblasts ≥15% [or ≥5% with an SF3B1 mutation]) with symptomatic anemia

lower-risk disease: no del(5q) with ring sideroblasts <15% (or <5% with an SF3B1 mutation) with symptomatic anemia

lower-risk disease: with clinically relevant thrombocytopenia or neutropenia (without symptomatic anemia)

higher-risk disease: transplant candidate

higher-risk disease: nontransplant candidate

Colaboradores

Autores

Vijaya Raj Bhatt, MBBS, MS

Associate Professor

Section Leader, Malignant Hematology

University of Nebraska Medical Center Division of Hematology-Oncology

Nebraska

Declarações

VRB has participated in a Safety Monitoring Committee for Protagonist Therapeutics and served as an Associate Editor for the journal Current Problems in Cancer. He has received consulting fees from Taiho, Sanofi, Imugene, Genentech, Incyte, Servier Pharmaceuticals, and AbbVie; research funding (institutional) from MEI Pharma, Actinium Pharmaceutical, Sanofi, AbbVie, Pfizer, Incyte, Jazz, and NMDP; and drug support (institutional) from Chimerix for a trial.

Prajwal Dhakal, MBBS

Clinical Assistant Professor of Internal Medicine-Hematology, Oncology, and Blood and Marrow Transplantation

University of Iowa

Iowa City

Declarações

PPD has been reimbursed by the Aplastic Anemia and MDS International Foundation for presenting on the topic "High-risk MDS: non-transplant therapies, current therapies, and clinical trials" in a patient and family conference. PD has received consulting fees from AbbVie pharmaceuticals.

Agradecimentos

Dr Vijaya Raj Bhatt and Dr Prajwal Dhakal would like to gratefully acknowledge Professor Apar Kishor Ganti and Associate Professor Alissa Marr, previous contributors to this topic.

Declarações

AKG has received research support from Amgen, Apexigen, Bristol-Myers Squibb, Janssen, Merck, New Link Genetics, Pfizer, and Takeda Oncology. AKG has been reimbursed for consulting work for AbbVie and Genentech. None of the grants or payments relate to work involving myelodysplastic syndrome. AM declares that she has no competing interests.

Revisores

David P. Steensma, MD, FACP

Associate Professor of Medicine (Hematology) and Oncology

Division of Hematology

Department of Medicine

Mayo Clinic

Rochester

Declarações

DPS declares that he has no competing interests.

Adrian C. Newland, BA, MB, BCh, MA, FRCP, FRCPath

Professor of Haematology

Queen Mary University

London

Declarações

ACN declares that he has no competing interests.

Créditos aos pareceristas

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Referências

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Principais artigos

Killick SB, Wiseman DH, Quek L, et al. British Society for Haematology guidelines for the diagnosis and evaluation of prognosis of adult myelodysplastic syndromes. Br J Haematol. 2021 Jul;194(2):282-93.Texto completo Resumo

Killick SB, Ingram W, Culligan D, et al. British Society for Haematology guidelines for the management of adult myelodysplastic syndromes. Br J Haematol. 2021 Jul;194(2):267-81.Texto completo Resumo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myelodysplastic syndromes [internet publication].Texto completo

Fenaux P, Haase D, Santini V, et al; ESMO Guidelines Committee. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021 Feb;32(2):142-56.Texto completo Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Aplastic anemia
- HIV infection
- Other viral infections (e.g., parvovirus, CMV, or hepatitis)
Mais Diagnósticos diferenciais
Diretrizes
- NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
- British Society for Haematology guidelines for the management of adult myelodysplastic syndromes
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Myelodysplastic syndrome

Summary

Definition

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Tests to avoid

Investigações a serem consideradas

Algoritmo de tratamento

lower-risk disease: asymptomatic

lower-risk disease: MDS-5q (del(5q) ± one other cytogenetic abnormality except those involving chromosome 7) with symptomatic anemia

lower-risk disease: MDS-SF3B1 (no del(5q) ± other cytogenetic abnormalities with ring sideroblasts ≥15% [or ≥5% with an SF3B1 mutation]) with symptomatic anemia

lower-risk disease: no del(5q) with ring sideroblasts <15% (or <5% with an SF3B1 mutation) with symptomatic anemia

lower-risk disease: with clinically relevant thrombocytopenia or neutropenia (without symptomatic anemia)

higher-risk disease: transplant candidate

higher-risk disease: nontransplant candidate

Colaboradores

Autores

Vijaya Raj Bhatt, ​MBBS, MS

Declarações

Prajwal Dhakal, MBBS

Declarações

Agradecimentos

Declarações

Revisores

David P. Steensma, MD, FACP

Declarações

Adrian C. Newland, BA, MB, BCh, MA, FRCP, FRCPath

Declarações

Créditos aos pareceristas

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

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Vijaya Raj Bhatt, MBBS, MS