Myeloid neoplasm with germline predisposition: A 2016 update for pathologists

Juehua Gao*, Shunyou Gong, Yi-Hua Chen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Context.-Myeloid neoplasms with familial occurrence have been rarely reported in the past. With the advance of molecular technology and better understanding of the molecular pathogenesis of myeloid neoplasms, investigating the genetic causes of familial acute myeloid leukemia or myelodysplastic syndrome has become feasible in the clinical setting. Recent studies have identified a rapidly expanding list of germline mutations associated with increased risks of developing myeloid neoplasm in the affected families. It is important to recognize these entities, as such a diagnosis may dictate a unique approach in clinical management and surveillance for the patients and carriers. Objective.-To raise the awareness of myeloid neoplasms arising in the setting of familial inheritance among practicing pathologists. Data Sources.-Based on recent literature and the 2016 revision of the World Health Organization classification of hematopoietic neoplasms, we provide an up-to-date review of myeloid neoplasm with germline predisposition. Conclusions.-This short review focuses on the clinical, pathologic, and molecular characterization of myeloid neoplasm with germline predisposition. We emphasize the important features that will help practicing pathologists to recognize these newly described entities.

Original languageEnglish (US)
Pages (from-to)13-22
Number of pages10
JournalArchives of pathology & laboratory medicine
Issue number1
Early online dateJan 26 2018
StatePublished - Jan 1 2019

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology


Dive into the research topics of 'Myeloid neoplasm with germline predisposition: A 2016 update for pathologists'. Together they form a unique fingerprint.

Cite this