Novel 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 fusion was detected in...

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Published inCancers Vol. 15; no. 11; p. 2942
Main Authors Tembrink, Marco, Gerding, Wanda Maria, Wieczorek, Stefan, Mika, Thomas, Schroers, Roland, Nguyen, Huu Phuc, Vangala, Deepak Ben, Nilius-Eliliwi, Verena
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 27.05.2023
MDPI
Subjects
Acute myeloid leukemia
Allografts
Anemia
Angina pectoris
Bone marrow
Chemotherapy
Cytogenetics
Gene frequency
Gene fusion
Gene mapping
Genetic diversity
Genomes
Genomics
Histone methyltransferase
Labeling
Leukemia
Methyltransferase
Mutation
Patients
Pediatrics
Polymerase chain reaction
Stem cell transplantation
United States > US
disease monitoring: structural variants
clonal evolution
cytogenetics
karyotyping
rare variant pipeline
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Summary: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 fusion was detected in an adult patient with secondary AML. OGM identified the fusion of to 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 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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These authors contributed equally to this work.
ISSN:2072-6694
2072-6694
DOI:10.3390/cancers15112942