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cc-by (c) López Oreja, Irene et al., 2023
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/224326

SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia

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Splicing factor 3B subunit 1 (SF3B1) is involved in pre-mRNA branch site recognition and is the target of antitumor-splicing inhibitors. Mutations in SF3B1 are observed in 15% of patients with chronic lymphocytic leukemia (CLL) and are associated with poor prognosis, but their pathogenic mechanisms remain poorly understood. Using deep RNA-sequencing data from 298 CLL tumor samples and isogenic SF3B1 WT and K700E-mutated CLL cell lines, we characterize targets and pre-mRNA sequence features associated with the selection of cryptic 39 splice sites upon SF3B1 mutation, including an event in the MAP3K7 gene relevant for activation of NF-κB signaling. Using the H3B-8800 splicing modulator, we show, for the first time in CLL, cytotoxic effects in vitro in primary CLL samples and in SF3B1-mutated isogenic CLL cell lines, accompanied by major splicing changes and delayed leukemic infiltration in a CLL xenotransplant mouse model. H3B-8800 displayed preferential lethality towards SF3B1- mutated cells and synergism with the BCL2 inhibitor venetoclax, supporting the potential use of SF3B1 inhibitors as a novel therapeutic strategy in CLL.

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LÓPEZ OREJA, Irene, GOHR, Andre, PLAYA-ALBINYANA, Heribert, GIRÓ, Ariadna, ARENAS RÍOS, Fabián, HIGASHI, Morihiro, TRIPATHI, Rupal, LÓPEZ GUERRA, Mónica, IRIMIA MARTÍNEZ, Manuel, AYMERICH GREGORIO, Marta, VALCÁRCEL JUÁREZ, Juan, BONNAL, Sophie, COLOMER PUJOL, Dolors. SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia. _Life Science Alliance_. 2023. Vol. 6, núm. 11. [consulta: 24 de novembre de 2025]. ISSN: 2575-1077. [Disponible a: https://hdl.handle.net/2445/224326]

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