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.
Keywords: ASXL1; Familial acute myeloid leukemia; Familial myelodysplastic syndrome; Nextgen sequencing.