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Current Hematologic Malignancy Reports

Erschienen in:

26.09.2018 | Acute Myeloid Leukemias (H Erba, Section Editor)

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

verfasst von: Imo J. Akpan, Afaf E. G. Osman, Michael W. Drazer, Lucy A. Godley

Erschienen in: Current Hematologic Malignancy Reports | Ausgabe 6/2018

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Abstract

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.

Summary

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.

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Titel: Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies
verfasst von: Imo J. Akpan
Afaf E. G. Osman
Michael W. Drazer
Lucy A. Godley
Publikationsdatum: 26.09.2018
Verlag: Springer US
Erschienen in: Current Hematologic Malignancy Reports / Ausgabe 6/2018
Print ISSN: 1558-8211
Elektronische ISSN: 1558-822X
DOI: https://doi.org/10.1007/s11899-018-0473-7

Springer Medizin

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

Abstract

Purpose of Review

Recent Findings

Summary

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