Inherited Susceptibility to Hematopoietic Malignancies in the Era of Precision Oncology

JCO Precis Oncol. 2021 Nov:5:107-122. doi: 10.1200/PO.20.00387.

Abstract

As germline predisposition to hematopoietic malignancies has gained increased recognition and attention in the field of oncology, it is important for clinicians to use a systematic framework for the identification, management, and surveillance of patients with hereditary hematopoietic malignancies (HHMs). In this article, we discuss strategies for identifying individuals who warrant diagnostic evaluation and describe considerations pertaining to molecular testing. Although a paucity of prospective data is available to guide clinical monitoring of individuals harboring pathogenic variants, we provide recommendations for clinical surveillance based on consensus opinion and highlight current advances regarding the risk of progression to overt malignancy in HHM variant carriers. We also discuss the prognosis of HHMs and considerations surrounding the utility of allogeneic stem-cell transplantation in these individuals. We close with an overview of contemporary issues at the intersection of HHMs and precision oncology.

Publication types

  • Review

MeSH terms

  • Cell-Free Nucleic Acids
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Hematologic Neoplasms / diagnosis
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / therapy*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Precision Medicine / methods*
  • Prognosis
  • Risk

Substances

  • Cell-Free Nucleic Acids