Myelodysplastic syndrome

Last reviewed: 18 Apr 2022
Last updated: 20 Aug 2020

Summary

Definition

History and exam

Key diagnostic factors

  • older age
  • asymptomatic
  • fatigue
  • exercise intolerance
  • pallor
  • petechiae, purpura
  • bacterial infections
More key diagnostic factors

Other diagnostic factors

  • autoimmune disorders
  • splenomegaly
  • hepatomegaly
  • lymphadenopathy
Other diagnostic factors

Risk factors

  • age >70 years
  • ionizing radiation
  • alkylating agents
  • topoisomerase inhibitors
  • prior hematopoietic stem cell transplantation
  • tobacco
  • benzene
  • aplastic anemia
  • paroxysmal nocturnal hemoglobinuria (PNH)
  • Down syndrome (trisomy 21)
  • congenital neutropenia
  • DNA repair deficiency syndromes
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC 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
More 1st investigations to order

Investigations to consider

  • serum erythropoietin
  • HLA typing
  • flow cytometry
More investigations to consider

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

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

NE

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.

Alissa Marr, MD

Assistant Professor

Division of Oncology-Hematology

University of Nebraska Medical Center

Omaha

NE

Disclosures

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

MN

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

UK

Disclosures

ACN declares that he has no competing interests.

  • Myelodysplastic syndrome images
  • Differentials

    • Aplastic anemia
    • HIV infection
    • Acute myelogenous leukemia
    More Differentials
  • Guidelines

    • NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
    • NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
    More Guidelines
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