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

J 2025

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

VISENTIN, Andrea; Enrico GAFFO; Moritz FURSTENAU; Kerry A ROGERS; Baliakas PANAGIOTIS et al.

Základní údaje

Originální název

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

Autoři

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

Vydání

Leukemia, LONDON, SPRINGERNATURE, 2025, 0887-6924

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 13.400 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

chronic lymphocytic leukemia; t(14;19); transcriptomic profiling; ERIC study; clinical characterization

Štítky

14110212, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 2. 2026 12:11, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

NU21-08-00237, projekt VaV

Název: Pokročilé sekvenační metody pro analýzu strukturních přestaveb nádorového genomu

Investor: Ministerstvo zdravotnictví ČR, Pokročilé sekvenační metody pro analýzu strukturních přestaveb nádorového genomu, Podprogram 1 - standardní

Citovat

@article{2523894,
   author = {Visentin, Andrea and Gaffo, Enrico and Furstenau, Moritz and Rogers, Kerry A and Panagiotis, Baliakas and Cui, Chenghua and Miller, Cecelia and Haferlach, Claudia and Plevová, Karla and Oscier, David and Davis, Zadie and NguyenandKhac, Florence and Roncaglia, Eleonora and Rigolin, Gian Matteo and Athanasiadou, Anastasia and BaranandMarszak, Fanny and Valiente, Alberto and Terol, Maria Jose and Abrisqueta, Pau and Espinet, Blanca and Puiggros, Anna and Martines, Annalisa and Bonaldi, Laura and Mauro, Francesca Romana and Scarfo, Lydia and Chatzikonstantinou, Thomas and Tausch, Eugen and Kreuzer, KarlandAnton and Kater, Arnon and Bosch, Francesc and Doubek, Michael and Panagiotidis, Panagiotis and Kalashnikova, Olga and Frezzato, Federica and Calabretto, Giulia and Ruocco, Valeria and Orsi, Silvia and Cellini, Alessandro and Angotzi, Francesco and Serafin, Andrea and Yi, Shuhua and Eichhorst, Barbara and Woyach, Jennifer A and Cuneo, Antonio and Ghia, Paolo and Stamatopoulos, Kostas and Trentin, Livio and Bortoluzzi, Stefania},
   article_location = {LONDON},
   article_number = {12},
   doi = {https://doi.org/10.1038/s41375-025-02755-8},
   keywords = {chronic lymphocytic leukemia; t(14;19); transcriptomic profiling; ERIC study; clinical characterization},
   language = {eng},
   issn = {0887-6924},
   journal = {Leukemia},
   title = {Clinical and transcriptomic characterization of patients with chronic lymphocytic leukemia harboring t(14;19): an ERIC study},
   url = {https://www.nature.com/articles/s41375-025-02755-8},
   volume = {39},
   year = {2025}
}

TY  - JOUR
ID  - 2523894
AU  - 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
PY  - 2025
TI  - Clinical and transcriptomic characterization of patients with chronic lymphocytic leukemia harboring t(14;19): an ERIC study
JF  - Leukemia
VL  - 39
IS  - 12
SP  - 2957-2967
EP  - 2957-2967
PB  - SPRINGERNATURE
SN  - 08876924
KW  - chronic lymphocytic leukemia
KW  - t(14;19)
KW  - transcriptomic profiling
KW  - ERIC study
KW  - clinical characterization
UR  - https://www.nature.com/articles/s41375-025-02755-8
N2  - 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.
ER  -

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