Germline Predisposition to Hematolymphoid Neoplasia

Olga K. Weinberg, Frank Kuo, Katherine R. Calvo

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review clinical cases with germline predisposition to hematolymphoid neoplasms. Methods: The Workshop Panel reviewed 51 cases with germline mutations and rendered consensus diagnoses. Of these, six cases were presented at the meeting by the submitting pathologists. Results: The cases submitted to the session covering germline predisposition included 16 cases with germline GATA2 mutations, 10 cases with germline RUNX1 mutations, two cases with germline CEBPA mutations, two germline TP53 mutations, and one case of germline DDX41 mutation. The most common diagnoses were acute myeloid leukemia (15 cases) and myelodysplastic syndrome (MDS, 14 cases). Conclusions: The majority of the submitted neoplasms occurring in patients with germline predisposition were myeloid neoplasms with germline mutations in GATA2 and RUNX1. The presence of a germline predisposition mutation is not sufficient for a diagnosis of a neoplasm until the appearance of standard diagnostic features of a hematolymphoid malignancy manifest: in general, the diagnostic criteria for neoplasms associated with germline predisposition disorders are the same as those for sporadic cases.

Original languageEnglish (US)
Article numberaqz067
Pages (from-to)258-276
Number of pages19
JournalAmerican journal of clinical pathology
Issue number3
StatePublished - Aug 1 2019
Externally publishedYes


  • AML
  • GATA2
  • Germline predisposition
  • Hematolymphoid neoplasia
  • MDS
  • Molecular genetics
  • RUNX1
  • Targeted therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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