NYMC Faculty Publications

DOI

10.1186/s40364-018-0121-3

Journal Title

Biomarker Research

First Page

7

Document Type

Article

Publication Date

2-1-2018

Department

Medicine

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.

Publisher's Statement

Originally published in Biomarker Research, 2018, 6. The original material can be found here.

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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