Novel \(\it NUP98::ASH1L\) gene fusion in acute myeloid leukemia detected by optical genome mapping

  • Optical genome mapping (OGM) recently has demonstrated the potential to improve genetic diagnostics in acute myeloid leukemia (AML). In this study, OGM was utilized as a tool for the detection of genome-wide structural variants and disease monitoring. A previously unrecognized \(\it NUP98::ASH1L\) fusion was detected in an adult patient with secondary AML. OGM identified the fusion of \(\it NUP98\) to \(\textit {Absent, Small, or Homeotic-Like Histone Lysine Methyltransferase (ASH1L)}\) as result of a complex structural rearrangement between chromosomes 1 and 11. A pipeline for the measurement of rare structural variants (Rare Variant Pipeline, Bionano Genomics, San Diego, CA, USA) was used for detection. As \(\it NUP98\) and other fusions are relevant for disease classification, this demonstrates the necessity for methods such as OGM for cytogenetic diagnostics in AML. Furthermore, other structural variants showed discordant variant allele frequencies at different time points over the course of the disease and treatment pressure, indicating clonal evolution. These results support OGM to be a valuable tool for primary diagnostics in AML as well as longitudinal testing for disease monitoring and deepening our understanding of genetically heterogenous diseases.

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Author:Marco TembrinkORCiDGND, Wanda Maria GerdingORCiDGND, Stefan WieczorekGND, Thomas MikaORCiDGND, Roland SchroersORCiDGND, Huu Phuc NguyenORCiDGND, Deepak VangalaORCiDGND, Verena Nilius-EliliwiORCiDGND
Parent Title (English):Cancers
Place of publication:Basel
Document Type:Article
Date of Publication (online):2023/01/12
Date of first Publication:2023/05/27
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
clonal evolution; cytogenetics; disease monitoring: structural variants; karyotyping; rare variant pipeline
Issue:11, Article 2942
First Page:2942-1
Last Page:2942-17
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:Medizinische Fakultät, Abteilung für Humangenetik
Knappschaftskrankenhaus Bochum, Medizinische Klinik, Hämatologie / Onkologie
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY 4.0 - Attribution 4.0 International