Neutropenia in the age of genetic testing: Advances and challenges

Am J Hematol. 2019 Mar;94(3):384-393. doi: 10.1002/ajh.25374. Epub 2019 Jan 8.

Abstract

Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Disease Management
  • Gene Expression
  • Genetic Predisposition to Disease
  • Genetic Testing / statistics & numerical data*
  • Germ-Line Mutation
  • Humans
  • Leukemia / complications
  • Leukemia / diagnosis*
  • Leukemia / genetics
  • Leukemia / therapy
  • Lymphoma / complications
  • Lymphoma / diagnosis*
  • Lymphoma / genetics
  • Lymphoma / therapy
  • Mass Screening / methods
  • Myelodysplastic Syndromes / complications
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / therapy
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Neutropenia / complications
  • Neutropenia / diagnosis*
  • Neutropenia / genetics
  • Neutropenia / therapy
  • Practice Guidelines as Topic
  • Precision Medicine / methods
  • Risk Assessment

Substances

  • Neoplasm Proteins