Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)
| Autor: | Anna Puiggros, Silvia Ramos-Campoy, Joanna Kamaso, Mireia de la Rosa, Marta Salido, Carme Melero, María Rodríguez-Rivera, Sandrine Bougeon, Rosa Collado, Eva Gimeno, Rocío García-Serra, Sara Alonso, Marco Antonio Moro-García, María Dolores García-Malo, Xavier Calvo, Leonor Arenillas, Ana Ferrer, Tuomo Mantere, Alexander Hoischen, Jacqueline Schoumans, Blanca Espinet |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Cancer Research
chromosomal microarrays optical genome mapping Genomic complexity lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] chromosome banding analysis genomic complexity Optical genome mapping Chromosome banding analysis Prognosis All institutes and research themes of the Radboud University Medical Center Oncology Chromosomal microarrays chronic lymphocytic leukemia Chronic lymphocytic leukemia prognosis |
| Zdroj: | Cancers, 14 Cancers, 14, 14 Cancers; Volume 14; Issue 14; Pages: 3376 |
| ISSN: | 2072-6694 |
| Popis: | Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical–biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations ( |
| Databáze: | OpenAIRE |
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