Recognition of familial myeloid neoplasia in adults

Anna L. Brown, Jane E. Churpek, Luca Malcovati, Hartmut Döhner, Lucy A. Godley

Research output: Contribution to journalReview article

Abstract

Hereditary hematologic malignancy (HM) syndromes are increasingly recognized as causative of adult hematopoietic cancers, and the advent of next-generation sequencing has accelerated the discovery of new syndromes based on dense clustering of these diseases in particular families. Updated classifications schemes for myeloid malignancies will now include recommendations for taking a family history on all patients diagnosed with hematopoietic malignancies and for genetic counseling and testing of appropriate individuals and families. Therefore, now more than ever, clinicians and pathologists will need to have a high index of suspicion and be familiar with the aspects of a patient's personal or family history that should raise suspicion regarding these syndromes as well as the options for clinical testing. Whenever possible, individuals should be tested with certified, clinical platforms that can detect both point mutations and genomic rearrangements that disrupt gene function so that results are immediately actionable. Individuals and families who test negative for mutations in the known germline predisposition genes serve as important sources of discovery for new inherited susceptibility syndromes.

Original languageEnglish
Pages (from-to)60-68
Number of pages9
JournalSeminars in Hematology
Volume54
Issue number2
DOIs
Publication statusPublished - Apr 1 2017

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Hematologic Neoplasms
Neoplasms
Gene Rearrangement
Genetic Counseling
Genetic Testing
Point Mutation
Cluster Analysis
Mutation
Genes
Pathologists
Wells syndrome

Keywords

  • Familial hematopoietic malignancies
  • Germline mutations
  • Inherited predisposition

ASJC Scopus subject areas

  • Hematology

Cite this

Recognition of familial myeloid neoplasia in adults. / Brown, Anna L.; Churpek, Jane E.; Malcovati, Luca; Döhner, Hartmut; Godley, Lucy A.

In: Seminars in Hematology, Vol. 54, No. 2, 01.04.2017, p. 60-68.

Research output: Contribution to journalReview article

Brown, Anna L. ; Churpek, Jane E. ; Malcovati, Luca ; Döhner, Hartmut ; Godley, Lucy A. / Recognition of familial myeloid neoplasia in adults. In: Seminars in Hematology. 2017 ; Vol. 54, No. 2. pp. 60-68.
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