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Published in: Annals of Hematology 6/2018

01-06-2018 | Original Article

Molecular characteristic of acute leukemias with t(16;21)/FUS-ERG

Authors: Elena Zerkalenkova, Agnesa Panfyorova, Anna Kazakova, Pavel Baryshev, Larisa Shelihova, Irina Kalinina, Galina Novichkova, Michael Maschan, Aleksey Maschan, Yulia Olshanskaya

Published in: Annals of Hematology | Issue 6/2018

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Abstract

T(16;21)(p11;q22)/FUS-ERG is a rare but recurrent translocation in acute leukemias and in some types of solid tumors. Due to multiple types of FUS-ERG transcripts, PCR-based minimal residual disease detection is impeded. In this study, we evaluated a cohort of pediatric patients with t(16;21)(p11;q22)/FUS-ERG and revealed fusion gene breakpoints. We implemented next-generation sequencing (NGS) on long PCR amplicons for the detection of fusion genes with unknown partners or DNA breakpoints. That allowed us to describe different fusion variants of FUS/ERG in different patients and to detect MRD on both RNA and DNA levels. We also found several accompanying mutations in epigenetic regulators (DNMT3A, ASXL1, BCOR) by targeted NGS approach in AML cases. These mutations preceded full transformation by t(16;21)(p11;q22)/FUS-ERG and allowed us to trace clonal evolution on all steps of therapy. As a casual observation, the ASXL1 mutation was found in the unrelated donor hematopoietic cells.
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Metadata
Title
Molecular characteristic of acute leukemias with t(16;21)/FUS-ERG
Authors
Elena Zerkalenkova
Agnesa Panfyorova
Anna Kazakova
Pavel Baryshev
Larisa Shelihova
Irina Kalinina
Galina Novichkova
Michael Maschan
Aleksey Maschan
Yulia Olshanskaya
Publication date
01-06-2018
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 6/2018
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-018-3267-z

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