AI Article Synopsis

  • * Recent studies using next-generation sequencing have highlighted significant mutations in genes like NOTCH1, SF3B1, and TP53 that are involved in crucial cellular functions like DNA repair and RNA processing.
  • * In our research, analyzing patients in the REM clinical trial, we found that, aside from mutations in the TP53 gene, other mutations do not significantly impact the effectiveness of maintenance therapy with rituximab following initial treatment with FCR.

Article Abstract

Chronic Lymphocytic Leukemia (CLL) is the most prevalent leukemia in Western countries and is notable for its variable clinical course. This variability is partly reflected by the mutational status of IGHV genes. Many CLL samples have been studied in recent years by next-generation sequencing. These studies have identified recurrent somatic mutations in NOTCH1, SF3B1, ATM, TP53, BIRC3 and others genes that play roles in cell cycle, DNA repair, RNA metabolism and splicing. In this study, we have taken a deep-targeted massive sequencing approach to analyze the impact of mutations in the most frequently mutated genes in patients with CLL enrolled in the REM (rituximab en mantenimiento) clinical trial. The mutational status of our patients with CLL, except for the TP53 gene, does not seem to affect the good results obtained with maintenance therapy with rituximab after front-line FCR treatment.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432772PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0257353PLOS

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