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Current Oncology Reports

Open Access 26-06-2025 | Hereditary Disease | Review

Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management

Authors: Amy M. Trottier, Lea Cunningham, Lucy A. Godley

Published in: Current Oncology Reports

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Abstract

Purpose of Review

Hereditary hematopoietic malignancies (HHMs) were once considered extremely rare. As diagnostic testing indications and methods have evolved, deleterious germline variants associated with increased risk of developing hematopoietic malignances are recognized increasingly. The purpose of this review is to summarize recent advances in knowledge, diagnostic, and treatment approaches for several well-known HHM predisposition disorders.

Recent Findings

Patients often lack classic signs and symptoms typically associated with HHMs, may present at any age, and may not have a suggestive family history. Early identification of causative variants allows for timely anticipatory guidance for patients and family members and has important implications for optimizing treatment decisions.

Summary

HHMs are not rare. With expanded genetic testing along with appropriate germline tissue selection and ancillary testing, predisposition variants can be identified early and inform appropriate surveillance and treatment decisions for patients and their families.
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Metadata
Title
Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management
Authors
Amy M. Trottier
Lea Cunningham
Lucy A. Godley
Publication date
26-06-2025
Publisher
Springer US
Published in
Current Oncology Reports
Print ISSN: 1523-3790
Electronic ISSN: 1534-6269
DOI
https://doi.org/10.1007/s11912-025-01699-7

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