Acute myeloid leukemia in a father and son with a germline mutation of ASXL1

Acute myeloid leukemia in a father and son with a germline mutation of ASXL1

Abstract 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 my...

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Bibliographic Details
Main Authors: Karen Seiter, Kyaw Htun, Paul Baskind, Zach Liu
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Biomarker Research
Subjects:
Familial acute myeloid leukemia
Familial myelodysplastic syndrome
ASXL1
Nextgen sequencing
Online Access:http://link.springer.com/article/10.1186/s40364-018-0121-3
Description
Summary:Abstract 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.
ISSN:2050-7771

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