Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.

Details

Serval ID
serval:BIB_4E06EC46D36B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.
Journal
Genes, chromosomes & cancer
Author(s)
Flach J., Shumilov E., Joncourt R., Porret N., Tchinda J., Legros M., Scarpelli I., Hewer E., Novak U., Schoumans J., Bacher U., Pabst T.
ISSN
1098-2264 (Electronic)
ISSN-L
1045-2257
Publication state
Published
Issued date
04/2020
Peer-reviewed
Oui
Volume
59
Number
4
Pages
268-274
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Reciprocal RUNX1 fusions are traditionally found in up to 10% of acute myeloid leukemia (AML) patients, usually associated with a translocation (8;21)(q22;q22) corresponding to the RUNX1-RUNX1T1 fusion gene. So far, alternative RUNX1 rearrangements have been reported only rarely in AML, and the few reports so far have focused on results based on cytogenetics, fluorescence in situ hybridization, and polymerase chain reaction. Acknowledging the inherent limitations of these diagnostic techniques, the true incidence of rare RUNX1 rearrangements may be underestimated. In this report, we present two cases of adult AML, in which we detected rare RUNX1 rearrangements not by conventional cytogenetics but rather by next-generation panel sequencing. These include t(16;21)(q24;q22)/RUNX1-CBFA2T3 and t(7;21)(p22;q22)/RUNX1-USP42, respectively. In both patients the AML was therapy-related and associated with additional structural and numerical alterations thereby conferring bad prognosis. This is in line with previous reports on rare RUNX1 fusions in AML and emphasizes the clinical importance of their detection. In summary, our report not only confirms the clinical utility of NGS for diagnostics of rare reciprocal rearrangements in AML in a real-life scenario but also sheds light on the variety and complexity within AML. It further emphasizes the need for collection of additional cases for deepening insights on their clinical meaning as well as their frequency.
Keywords
acute myeloid leukemia, myeloid gene panel, new minimal residual disease marker, next-generation sequencing, rare RUNX1 rearrangements
Pubmed
Web of science
Create date
05/12/2019 23:11
Last modification date
20/10/2020 5:23
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