Current Hematologic Malignancy Reports

, Volume 13, Issue 6, pp 426–434 | Cite as

Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies

  • Imo J. Akpan
  • Afaf E. G. Osman
  • Michael W. Drazer
  • Lucy A. GodleyEmail author
Acute Myeloid Leukemias (H Erba, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Acute Myeloid Leukemias


Purpose of Review

To review the diagnosis of individuals with hereditary hematopoietic malignancies (HHMs) that predispose to myelodysplastic syndrome and acute myeloid leukemia, barriers to HHM diagnosis, and unaddressed questions and controversies within the HHM field.

Recent Findings

Pathogenic germline mutations in approximately a dozen genes predispose to HHMs, and many more genes are likely to be involved. Many of these HHM genes have only been identified recently. HHM phenotypes are diverse, but may be categorized as “purely” myeloid syndromes, syndromes with abnormal platelet number/function, and HHMs with additional organ system involvement. A number of questions remain unanswered in this emerging field, including the ideal diagnostic approach for patients at risk for HHMs, the optimal surveillance of unaffected carriers, and how to personalize care for individuals with HHMs.


The field of HHMs is evolving rapidly. Ongoing research in this area will eventually inform the care of patients with both somatic and hereditary cancer syndromes, but much work remains to be done.


Inherited leukemia Familial leukemia Hereditary leukemia 


Compliance with Ethical Standards

Conflict of Interest

Lucy Godley reports other from UpToDate, Inc., outside of the submitted work. Imo J. Akpan, Afaf Osman, and Michael W. Drazer declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Imo J. Akpan
    • 1
  • Afaf E. G. Osman
    • 1
  • Michael W. Drazer
    • 1
    • 2
  • Lucy A. Godley
    • 1
    • 2
    Email author
  1. 1.Section of Hematology/Oncology, Department of Medicine, The University of Chicago Comprehensive Cancer CenterThe University of ChicagoChicagoUSA
  2. 2.Department of Human GeneticsThe University of ChicagoChicagoUSA

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