Myelodysplastic syndrome

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

Last reviewed: 2 Jun 2025

Last updated: 11 Oct 2024

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 anaemia, leukopenia, and thrombocytopenia.

Diagnosis is confirmed if blood and bone marrow evaluation reveals cytopenias, morphological 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 anaemia); 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 anaemia, thrombocytopenia, neutropenia), or may progress rapidly to acute myeloid leukaemia (AML). Most deaths occur due to complications from MDS (e.g., infection) before progression to AML.

Definition

MDS is a heterogenous group of clonal haematopoietic neoplasms characterised by cytopenias (anaemia, 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 haematological malignancy or following exposure to chemotherapy or radiotherapy.[3]

History and exam

Key diagnostic factors

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

Full details

Other diagnostic factors

presence of risk factors
autoimmune disorders
splenomegaly
hepatomegaly
lymphadenopathy

Full details

Risk factors

age >70 years
prior chemotherapy
prior radiotherapy
prior autologous haematopoietic stem cell transplantation
congenital disorders
tobacco
benzene
aplastic anaemia
paroxysmal nocturnal haemoglobinuria (PNH)

Full details

Diagnostic investigations

1st investigations to order

FBC 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

Full details

Investigations to consider

viral serology
serum erythropoietin
lactate dehydrogenase
HLA typing
flow cytometry

Full details

Treatment algorithm

ACUTE

lower-risk disease: asymptomatic

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

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

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

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

higher-risk disease: transplant candidate

higher-risk disease: non-transplant candidate

Contributors

Authors

Vijaya Raj Bhatt, MBBS, MS

Associate Professor

Section Leader, Malignant Hematology

University of Nebraska Medical Center Division of Hematology-Oncology

Nebraska

Disclosures

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

Disclosures

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.

Acknowledgements

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.

Disclosures

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.

Peer reviewers

David P. Steensma, MD, FACP

Associate Professor of Medicine (Hematology) and Oncology

Division of Hematology

Department of Medicine

Mayo Clinic

Rochester

Disclosures

DPS declares that he has no competing interests.

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

Professor of Haematology

Queen Mary University

London

Disclosures

ACN declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

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.Full text Abstract

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.Full text Abstract

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

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.Full text Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

lower-risk disease: asymptomatic

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

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

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

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

higher-risk disease: transplant candidate

higher-risk disease: non-transplant candidate

Contributors

Authors

Vijaya Raj Bhatt, MBBS, MS

Disclosures

Prajwal Dhakal, MBBS

Disclosures

Acknowledgements

Disclosures

Peer reviewers

David P. Steensma, MD, FACP

Disclosures

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

Disclosures

References

Key articles

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice