Non-canonical BRAF variants and rearrangements in hairy cell leukemia.
| Autor: | Langabeer SE; Cancer Molecular Diagnostics, St. James's Hospital, Dublin, D08 W9RT, Ireland. |
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| Jazyk: | angličtina |
| Zdroj: | Oncology research [Oncol Res] 2024 Aug 23; Vol. 32 (9), pp. 1423-1427. Date of Electronic Publication: 2024 Aug 23 (Print Publication: 2024). |
| DOI: | 10.32604/or.2024.051218 |
| Abstrakt: | Hairy cell leukemia (HCL) is an uncommon mature B-cell malignancy characterized by a typical morphology, immunophenotype, and clinical profile. The vast majority of HCL patients harbor the canonical BRAF V600E mutation which has become a rationalized target of the subsequently deregulated RAS-RAF-MEK-MAPK signaling pathway in HCL patients who have relapsed or who are refractory to front-line therapy. However, several HCL patients with a classical phenotype display non-canonical BRAF mutations or rearrangements. These include sequence variants within alternative exons and an oncogenic fusion with the IGH gene. Care must be taken in the molecular diagnostic work-up of patients with typical HCL but without the BRAF V600E to include investigation of these uncommon mechanisms. Identification, functional characterization, and reporting of further such patients is likely to provide insights into the pathogenesis of HCL and enable rational selection of targeted inhibitors in such patients if required. Competing Interests: The author declares that he has no conflicts of interest to report regarding the present study. (© 2024 The Author.) |
| Databáze: | MEDLINE |
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