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Jennifer R. Brown, MD, PhD


Next-Generation Sequencing and Its Prognostic Value for Patients With CLL

By: Joshua D. Madera, MS
Posted: Friday, August 5, 2022

The use of the next-generation sequencing capture-based target assay in patients with chronic lymphocytic leukemia (CLL) may be beneficial in defining molecular predictive and/or prognostic variables, according to a study published in Diagnostics. In fact, analysis of the gene TP53, in particular, may be the most prognostic, since it has been involved in both clonal and subclonal mutations, explained Irene Luna, MD, of the Hospital Universitario y Polit├ęcnico La Fe, Valencia, Spain, and colleagues.

From 2019 to 2021, a total of 119 patients with untreated CLL were recruited for the study. Peripheral blood was collected from patients prior to initiating therapy, and their genomic DNA was isolated. Single nucleotide variations and copy number variations were detected using the next-generation sequencing capture-based target assay.

The study authors reported a total of 2,804 full variants identified in the 119 patients with CLL. After the application of filters and categorization of the variants, 153 genes were identified as pathologic. The genes with the greatest number of variants included TP53 (n = 60), SF3B1 (n = 31), NOTCH1 (n = 30), ATM (n = 29), and BIRC3 (n = 29). Furthermore, 78% of the copy number variations were confirmed as conventional cytogenetic, as determined by next-generation sequencing. The most frequent copy number variation identified was del(13q; n = 33). Moreover, TP53 and SF3B1 were identified as the most common co-occurring variants. Simultaneous clonal and subclonal variant expression was seen in 81% of patients with del(17p).

Disclosure: For full disclosures of the study authors, visit

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