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Arch Pathol Lab Med. 2019 Jan;143(1):13-22. doi: 10.5858/arpa.2017-0194-RA. Epub 2018 Jan 26.

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists.

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From the Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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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.


To raise the awareness of myeloid neoplasms arising in the setting of familial inheritance among practicing pathologists.


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.


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.


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