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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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

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spelling	doaj-fbee9ba7bff544a587d60f51c65d50152020-11-24T23:07:02ZengBMCBiomarker Research2050-77712018-02-01611310.1186/s40364-018-0121-3Acute myeloid leukemia in a father and son with a germline mutation of ASXL1Karen Seiter0Kyaw Htun1Paul Baskind2Zach Liu3Department of Medicine, New York Medical CollegeDepartment of Medicine, New York Medical CollegeDepartment of Medicine, New York Medical CollegeEmerge LaboratoriesAbstract 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.http://link.springer.com/article/10.1186/s40364-018-0121-3Familial acute myeloid leukemiaFamilial myelodysplastic syndromeASXL1Nextgen sequencing
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Karen Seiter Kyaw Htun Paul Baskind Zach Liu
spellingShingle	Karen Seiter Kyaw Htun Paul Baskind Zach Liu Acute myeloid leukemia in a father and son with a germline mutation of ASXL1 Biomarker Research Familial acute myeloid leukemia Familial myelodysplastic syndrome ASXL1 Nextgen sequencing
author_facet	Karen Seiter Kyaw Htun Paul Baskind Zach Liu
author_sort	Karen Seiter
title	Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title_short	Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title_full	Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title_fullStr	Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title_full_unstemmed	Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title_sort	acute myeloid leukemia in a father and son with a germline mutation of asxl1
publisher	BMC
series	Biomarker Research
issn	2050-7771
publishDate	2018-02-01
description	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.
topic	Familial acute myeloid leukemia Familial myelodysplastic syndrome ASXL1 Nextgen sequencing
url	http://link.springer.com/article/10.1186/s40364-018-0121-3
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Acute myeloid leukemia in a father and son with a germline mutation of ASXL1

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