Myelodysplastic syndrome

Last reviewed: March 2019

Last updated: November 2017

Summary

Heterogeneous group of clonal stem cell disorders, characterised by ineffective haematopoiesis.

Primarily a disease of older adults. Can present with symptoms of anaemia, leukopenia, and thrombocytopenia, but often found during routine laboratory investigations in asymptomatic patients.

Diagnosed when bone marrow demonstrates significant dysplasia, clonal cytogenetic abnormality, quantitative changes in at least one of the blood cell lines, and blasts <20%.

Treatment often based on supportive measures, including red cell and platelet transfusions. Chemotherapy agents such as azacitidine, lenalidomide, and decitabine are used for certain patients. Stem cell transplant is the only potentially curative therapy.

May have a prolonged course with anaemia and neutropenic infections, or may progress rapidly to acute myelogenous leukaemia (AML). However, most patients die of infection while in the myelodysplastic syndrome (MDS) stage of their disease.

Definition

Myelodysplastic syndrome (MDS) is a group of clonal stem cell disorders, characterised by ineffective and dysplastic haematopoiesis resulting in 1 or more cytopenias, and a varying predilection to develop acute myeloid leukaemia (AML). [1] MDS is diagnosed when bone marrow demonstrates significant dysplasia, clonal cytogenetic abnormality, quantitative changes in at least one of the blood cell lines, and blasts <20%. Patients with blasts ≥20% are considered to have AML. MDS can arise primarily without any inciting event or may be related to previous treatment with either chemotherapy or radiation.

History and exam

Key diagnostic factors

older age
asymptomatic
fatigue
exercise intolerance
pallor
petechiae, purpura
bacterial infections

Full details

Other diagnostic factors

presence of risk factors
autoimmune disorders
splenomegaly
hepatomegaly
lymphadenopathy

Full details

Risk factors

age >70 years
ionising radiation
alkylating agents
topoisomerase inhibitors
prior haematopoietic stem cell transplantation
tobacco
benzene
aplastic anaemia
paroxysmal nocturnal haemoglobinuria (PNH)
Down's syndrome (trisomy 21)
congenital neutropenia
DNA repair deficiency syndromes

Full details

Diagnostic investigations

1st investigations to order

FBC with differential
reticulocyte count
red blood cell folate
serum B12 levels
iron studies
HIV testing
bone marrow aspiration with iron stain
bone marrow core biopsy
bone marrow cytogenetic analysis

Full details

Investigations to consider

serum erythropoietin
HLA typing
flow cytometry

Full details

Treatment algorithm

ACUTE

high-risk disease with suitable donor and good general health

ONGOING

asymptomatic cytopenia(s)

symptomatic cytopenia(s): no chromosome 5q31 deletion

symptomatic cytopenia(s): with chromosome 5q31 deletion

Contributors

Authors VIEW ALL 

Apar Kishor Ganti, MD, MS, FACP

Staff Physician

VA Nebraska-Western Iowa Health Care System

Professor

Division of Oncology-Hematology

Department of Internal Medicine

University of Nebraska Medical Center

Omaha

Disclosures

AKG has received research grants from Amgen, AstraZeneca, Bristol-Myers Squibb, Janssen, Merck, New Link Genetics, and Pfizer. AKG has been reimbursed for consulting work for Ariad Pharmaceuticals, Biodesix, and Pfeizer. He is also in discussion with Fresenius-Kabi on a consulting contract for clinical trial development. None of the grants or payments relate to work involving myelodysplastic syndrome.

Alissa Marr, MD

Assistant Professor

Division of Oncology-Hematology

University of Nebraska Medical Center

Omaha

Disclosures

AM declares that she has no competing interests.

Peer reviewers VIEW ALL 

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.

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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

high-risk disease with suitable donor and good general health

asymptomatic cytopenia(s)

symptomatic cytopenia(s): no chromosome 5q31 deletion

symptomatic cytopenia(s): with chromosome 5q31 deletion

Contributors

Authors VIEW ALL 

Apar Kishor Ganti, MD, MS, FACP

Disclosures

Alissa Marr, MD

Disclosures

Peer reviewers VIEW ALL 

David P. Steensma, MD, FACP

Disclosures

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

Disclosures

Differentials

Guidelines

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