How are germline mutations that predispose to acute myeloid leukemia (AML) classified?

Updated: May 26, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

With the routine use of expanded next-generation genetic panels on bone marrow, and with confirmation on nonhematopoietic tissues, many more patients are being diagnosed with germline mutations that predisposed them to AML. Among these genes are DDX41, SRP72, ANKRD26, and ETV6. [10] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia now includes a subtype "Myeloid neoplasms with germ line predisposition". [1] Thus, to properly classify patients with AML, these genes must be included in nextgen panels.


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