Recognizing familial myeloid leukemia in adults

Area of Science:

• Hematology
• Genetics
• Oncology

Background:

• Familial cases of myeloid leukemia are increasingly recognized.
• Genetic syndromes predispose individuals to bone marrow diseases, including leukemia.
• Germline testing is becoming more common for these familial cases.

Purpose of the Study:

• To highlight the recognition and management of familial myeloid leukemia cases.
• To outline the characteristics of known inherited myeloid leukemia predisposition syndromes.
• To discuss the role of germline testing in adult myeloid leukemia.

Main Methods:

• Review of current Clinical Laboratory Improvement Amendments-approved genetic testing for myeloid leukemia predisposition syndromes.
• Identification of key genes associated with familial leukemia (e.g., RUNX1, CEBPA, GATA2).
• Discussion of inherited bone marrow failure syndromes with relevance to leukemia (e.g., dyskeratosis congenita).

Main Results:

• Established genetic testing is available for familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML), familial AML with mutated CEBPA, familial myelodysplastic syndrome/acute leukemia with mutated GATA2, and inherited bone marrow failure syndromes.
• New predisposition alleles are expected to be identified as more families are recognized.
• Understanding of major known syndromes is outlined.

Conclusions:

• Germline testing is crucial for diagnosing and managing inherited myeloid leukemia syndromes.
• Continued research is needed to expand the understanding of inherited myeloid leukemia.
• Early identification of genetic predispositions can improve patient outcomes.