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

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 myelodysp...

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Autores principales: Seiter, Karen, Htun, Kyaw, Baskind, Paul, Liu, Zach
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809979/
https://www.ncbi.nlm.nih.gov/pubmed/29456859
http://dx.doi.org/10.1186/s40364-018-0121-3
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author Seiter, Karen
Htun, Kyaw
Baskind, Paul
Liu, Zach
author_facet Seiter, Karen
Htun, Kyaw
Baskind, Paul
Liu, Zach
author_sort Seiter, Karen
collection PubMed
description 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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spelling pubmed-58099792018-02-16 Acute myeloid leukemia in a father and son with a germline mutation of ASXL1 Seiter, Karen Htun, Kyaw Baskind, Paul Liu, Zach Biomark Res Case Report 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. BioMed Central 2018-02-13 /pmc/articles/PMC5809979/ /pubmed/29456859 http://dx.doi.org/10.1186/s40364-018-0121-3 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Seiter, Karen
Htun, Kyaw
Baskind, Paul
Liu, Zach
Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809979/
https://www.ncbi.nlm.nih.gov/pubmed/29456859
http://dx.doi.org/10.1186/s40364-018-0121-3
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