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Genetic Landscape of CLL With IGH Translocations

By: Hillary Ojeda
Posted: Monday, October 12, 2020

Next-generation sequencing of patients with chronic lymphocytic leukemia (CLL) and IGH rearrangements showed a distinct mutational profile with recurrent mutations in several genes. Jesús‐María Hernández‐Rivas, MD, PhD, of the University Hospital of Salamanca, Spain, and colleagues published their findings in the International Journal of Cancer. The authors suggest using next-generation sequencing to clarify the risk-stratification CLL model.

“Moreover, our findings showed that the incorporation of next-generation sequencing and the IGH probe in the CLL-FISH panel used in clinical routine could be extremely useful, especially for elucidating prognosis in ‘normal FISH’ cases,” the authors proposed.

The study included 862 patients with CLL who were screened for IGH translocation. The authors conducted a mutational analysis in 233 untreated patients with CLL: 46 with 14q32/IGH rearrangements and 187 from the control group. Next-generation sequencing studies were performed in 233 cases as well as on the same sample from the fluorescent in situ hybridization (FISH) test.

The most commonly mutated genes were NOTCHI (19.3%), IGLL5 (15%), SF3B1 (10.7%), TP53 (10%), ATM (9%), POT1 (8.5%), RPS15 (6.9%), CHD2 (6%), NFKBIE (5.1%), BIRC3 (5.1%), and XPO1 (4.3%). A total of 109 mutations located in 35 genes were identified among the 46 patients with IGH rearrangements. Of the patients, 82% had at least one mutation, and 61% had more than one mutated gene.

“The identification of novel recurrent mutations in CLL has provided a more comprehensive perspective on the genomic landscape and the biological mechanisms underlying the clinical heterogeneity of the disease,” the authors concluded.

Disclosure: The authors reported no conflicts of interest.



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