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Published on: March 26, 2018
Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
Karen Seiter1, Kyaw Htun1, Paul Baskind1
11Department of Medicine, New York Medical College, Valhalla, USA.
Background:
Myelodysplastic syndromes and acute myeloid leukemia usually occur sporadically in older adults. More recently cases of familial acute myeloid leukemia and/or myelodysplastic syndrome have been reported.
Case Presentation:
Currently we report a father and son who both developed myelodysplastic syndrome that progressed to acute myeloid leukemia. Both patients were found to have the identical mutation of ASXL1 on nextgen sequencing of both hematologic and nonhematologic tissues.
Conclusions:
These cases support the diagnosis of a germline mutation of ASXL1.
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