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Therapy-related acute myeloid leukemia with KMT2A-SNX9 gene fusion associated with a hyperdiploid karyotype after hemophagocytic lymphohistiocytosis
•Exposure to etoposide is strongly associated with therapy-related AML•KMT2A-SNX9 was identified in a t-AML with an abnormal karyotype using NGS method•HLH is a threatening disease, and its treatment should be handled carefully Therapy-related acute myeloid leukemia (t-AML) following treatment with...
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Published in: | Cancer genetics 2021-08, Vol.256-257, p.86-90 |
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Main Authors: | , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | •Exposure to etoposide is strongly associated with therapy-related AML•KMT2A-SNX9 was identified in a t-AML with an abnormal karyotype using NGS method•HLH is a threatening disease, and its treatment should be handled carefully
Therapy-related acute myeloid leukemia (t-AML) following treatment with topoisomerase-II inhibitors has been increasingly reported. These compounds (e.g. etoposide) promote DNA damage and are associated with KMT2A rearrangements. They are widely used as first-line treatment in hemophagocytic lymphohistiocytosis (HLH). Here we describe a newborn who developed t-AML after HLH treatment. We provide detailed clinical, cytogenetic, and molecular characteristics of this patient, including the identification of a novel gene fusion – KMT2A-SNX9 – in t-AML. Considering the dismal outcome of this case, we discuss the side-effects of etoposide administration during HLH treatment in infants. |
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ISSN: | 2210-7762 2210-7770 |
DOI: | 10.1016/j.cancergen.2021.05.001 |