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Purpose of Review <p>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.</p> Recent Findings <p>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.</p> Summary <p>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.</p>

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Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月26日

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  • Amy M. Trottier,
  • Lea Cunningham,
  • Lucy A. Godley

摘要

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.