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Open Access 01-09-2020 | Acute Myeloid Leukemia | Case Report

The molecular analysis of four coexistent mutations in additional sex combs like 1 (ASXL1) gene in a patient with acute myeloid leukemia

Authors: Aleksandra Leszczyńska, Witold Prejzner, Jolanta Grzenkowicz-Wydra, Maria Bieniaszewska, Jan Maciej Zaucha

Published in: Journal of Hematopathology | Issue 3/2020

Abstract

Mutations in the additional sex combs like 1 (ASXL1) gene are frequently involved in clonal hematopoiesis and are connected with an increased risk of hematologic cancer. These aberrations are frequently detected in a number of different hematological neoplasms including acute myeloid leukemia (AML). Patients harboring ASXL1 mutations tend to have a poor prognosis and poor response to therapy. Here, we report the coexistence of four different mutations in ASXL1 gene in a patient with AML. Such accumulation of mutations, in this gene, has not been described yet. Our findings suggest that accumulations of mutations in ASXL1 gene may play an important role in the development and/or progression of AML.

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Title: The molecular analysis of four coexistent mutations in additional sex combs like 1 (ASXL1) gene in a patient with acute myeloid leukemia
Authors: Aleksandra Leszczyńska
Witold Prejzner
Jolanta Grzenkowicz-Wydra
Maria Bieniaszewska
Jan Maciej Zaucha
Publication date: 01-09-2020
Publisher: Springer Berlin Heidelberg
Keyword: Acute Myeloid Leukemia
Published in: Journal of Hematopathology / Issue 3/2020
Print ISSN: 1868-9256
Electronic ISSN: 1865-5785
DOI: https://doi.org/10.1007/s12308-020-00398-5

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The molecular analysis of four coexistent mutations in additional sex combs like 1 (ASXL1) gene in a patient with acute myeloid leukemia

Abstract

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