Genetic Testing in the Diagnosis and Biology of Myeloid Neoplasms (Excluding Acute Leukemias)

Robert P. Hasserjian, Todd W. Kelley, Olga K. Weinberg, Elizabeth A. Morgan, Falko Fend

Research output: Contribution to journalArticlepeer-review

Abstract

The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology reviewed the role of genetic testing in the diagnosis of hematopoietic neoplasms, including non-acute leukemia myeloid malignancies. Methods: The workshop panel assigned 98 submitted cases to the category of non-acute leukemia myeloid neoplasms, of which 13 were selected for oral presentation. Results: Data from both conventional karyotyping and genetic sequencing had important impact on diagnosis, classification, and prognostication. However, some cases had genetic results that appeared discordant from the morphology and/or clinical features. Thus, the workshop underscored the need for careful management of genetic data by the pathologist and clinician, in the context of other findings. Conclusions: The workshop cases highlighted the significance of genetic aberrations in the diagnosis and treatment of non-acute leukemia myeloid neoplasms. Many genetic data have already been incorporated in the most recent World Health Organization classification, and undoubtedly they will factor increasingly in future classifications.

Original languageEnglish (US)
Article numberaqz069
Pages (from-to)302-321
Number of pages20
JournalAmerican journal of clinical pathology
Volume152
Issue number3
DOIs
StatePublished - Aug 1 2019
Externally publishedYes

Keywords

  • Cytogenetics
  • Molecular diagnostics
  • Myelodysplastic syndrome
  • Myeloproliferative neoplasm
  • Targeted therapy
  • WHO classification

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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