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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Detalles Bibliográficos
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
Descripción
Sumario: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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