Clinical and transcriptomic characterization of patients with chronic lymphocytic leukemia harboring t(14;19): an ERIC study

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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VISENTIN Andrea GAFFO Enrico FURSTENAU Moritz ROGERS Kerry A PANAGIOTIS Baliakas CUI Chenghua MILLER Cecelia HAFERLACH Claudia PLEVOVÁ Karla OSCIER David DAVIS Zadie NGUYEN-KHAC Florence RONCAGLIA Eleonora RIGOLIN Gian Matteo ATHANASIADOU Anastasia BARAN-MARSZAK Fanny VALIENTE Alberto TEROL Maria Jose ABRISQUETA Pau ESPINET Blanca PUIGGROS Anna MARTINES Annalisa BONALDI Laura MAURO Francesca Romana SCARFO Lydia CHATZIKONSTANTINOU Thomas TAUSCH Eugen KREUZER Karl-Anton KATER Arnon BOSCH Francesc DOUBEK Michael PANAGIOTIDIS Panagiotis KALASHNIKOVA Olga FREZZATO Federica CALABRETTO Giulia RUOCCO Valeria ORSI Silvia CELLINI Alessandro ANGOTZI Francesco SERAFIN Andrea YI Shuhua EICHHORST Barbara WOYACH Jennifer A CUNEO Antonio GHIA Paolo STAMATOPOULOS Kostas TRENTIN Livio BORTOLUZZI Stefania

Rok publikování 2025
Druh Článek v odborném periodiku
Časopis / Zdroj Leukemia
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.nature.com/articles/s41375-025-02755-8
Doi https://doi.org/10.1038/s41375-025-02755-8
Popis In chronic lymphocytic leukemia (CLL), the role of complex karyotype (CK) for prognostic stratification remains a topic of debate, and the impact of specific cytogenetic abnormalities is still unclear. This study aims to investigate the clinical and biological features of CLL with t(14;19)(q32;q13) (tCLL) involving the BCL3 gene. Patients with tCLL were younger and more commonly presented unmutated IGHV gene, subset #8 stereotypy, trisomy of chromosome 12, and complex karyotype than other patients without t(14;19) (oCLL). The presence of t(14;19) was associated with a shorter time to treatment and overall survival compared to oCLL. Gene expression analysis revealed a unique transcriptome profile in tCLL, characterized by the upregulation of BCL3 and the activation of B-cell receptor, PI3K-Akt. Conversely, apoptosis-related pathways were suppressed in tCLL. While the BTK gene was upregulated, the BCL2L11 gene, coding for the pro-apoptotic protein BIM, was downregulated. Notably, patients with tCLL were characterized by a trend (p = 0.058) for a longer time to the next treatment with BTK inhibitors (BTKi) compared to those treated with a venetoclax-based (Ven-based) regimen. We underscore the adverse outcomes of tCLL, its distinct molecular features and gene expression patterns. Therefore, our data suggest that identifying tCLL could help tailor therapeutic approaches.
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