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

Area of Science:

• Hematology
• Genetics
• Pathology

Background:

• Familial occurrence of myeloid neoplasms was previously rare.
• Molecular advancements enable investigation of genetic causes for familial acute myeloid leukemia and myelodysplastic syndrome.
• Germline mutations are increasingly identified as risk factors for myeloid neoplasms within families.

Purpose of the Study:

• To increase awareness among pathologists regarding myeloid neoplasms with familial inheritance.
• To provide an updated review of myeloid neoplasms with germline predisposition.
• To highlight key features for recognizing these entities.

Main Methods:

• Review of recent literature.
• Incorporation of the 2016 World Health Organization classification of hematopoietic neoplasms.

Main Results:

• A growing list of germline mutations associated with increased risk of myeloid neoplasms has been identified.
• Recognition of these entities is important for tailored clinical management and surveillance.
• Clinical, pathologic, and molecular characteristics of germline predisposition myeloid neoplasms are reviewed.

Conclusions:

• Pathologists need to be aware of familial myeloid neoplasms.
• Germline predisposition plays a significant role in certain myeloid neoplasms.
• Early recognition impacts patient and carrier management strategies.