Broad genomic workup including optical genome mapping uncovers a \(\it DDX3X\)
- In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to yield a genome-wide and detailed cytogenetic characterization at the time of diagnosis. A young female patient suffered from a rather unexpected aggressive disease course under FLT3 targeted therapy in combination with induction chemotherapy. By applying a "next-generation diagnostic workup" strategy with OGM and whole-exome sequencing (WES), a \(\textit {DDX3X: MLLT10}\) gene fusion could be detected, otherwise missed by routine diagnostics. Furthermore, several aspects of lineage ambiguity not shown by standard diagnostics were unraveled such as deletions of \(\it SUZ12\) and \(\it ARPP21\), as well as T-cell receptor recombination. In summary, the detection of this particular gene fusion \(\textit {DDX3X: MLLT10}\) in a female AML patient and the findings of lineage ambiguity are potential explanations for the aggressive course of disease. Our study demonstrates that OGM can yield novel clinically significant results, including additional information helpful in disease monitoring and disease biology.
Author: | Verena Nilius-EliliwiORCiDGND, Marco TembrinkORCiDGND, Wanda Maria GerdingORCiDGND, Krzystof P. LubienieckiGND, Joanna M. LubienieckaGND, Stefanie KankelGND, Thomas LiehrORCiDGND, Thomas MikaORCiDGND, Fotios DimopoulosGND, Konstanze DöhnerORCiDGND, Roland SchroersORCiDGND, Huu Phuc NguyenORCiDGND, Deepak VangalaORCiDGND |
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URN: | urn:nbn:de:hbz:294-102641 |
DOI: | https://doi.org/10.3389/fonc.2022.959243 |
Parent Title (English): | Frontiers in oncology |
Subtitle (English): | \(\it MLLT10\) gene fusion in acute myeloid leukemia |
Publisher: | Frontiers Media |
Place of publication: | Lausanne, Schweiz |
Document Type: | Article |
Language: | English |
Date of Publication (online): | 2023/09/11 |
Date of first Publication: | 2022/09/09 |
Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
Tag: | Open Access Fonds ARPP21; DDX3X; FLT3-ITD; MLLT10; SUZ12; acute myeloid leukemia; biphenotypic leukemia; optical genome mapping |
Volume: | 12 |
Issue: | Article 959243 |
First Page: | 959243-1 |
Last Page: | 959243-11 |
Note: | Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum. |
Institutes/Facilities: | Knappschaftskrankenhaus Bochum, Medizinische Klinik, Hämatologie / Onkologie |
Dewey Decimal Classification: | Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit |
open_access (DINI-Set): | open_access |
Licence (English): | Creative Commons - CC BY 4.0 - Attribution 4.0 International |