Scholarlink

<p>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 (<i>p</i> = 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.</p><p></p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月19日

查看全文
  • Andrea Visentin,
  • Enrico Gaffo,
  • Moritz Fürstenau,
  • Kerry A. Rogers,
  • Baliakas Panagiotis,
  • Chenghua Cui,
  • Cecelia Miller,
  • Claudia Haferlach,
  • Karla Plevova,
  • David Oscier,
  • Zadie Davis,
  • Florence Nguyen-Khac,
  • Eleonora Roncaglia,
  • Gian Matteo Rigolin,
  • Anastasia Athanasiadou,
  • Fanny Baran-Marszak,
  • Alberto Valiente,
  • Maria José Terol,
  • Pau Abrisqueta,
  • Blanca Espinet,
  • Anna Puiggros,
  • Annalisa Martines,
  • Laura Bonaldi,
  • Francesca Romana Mauro,
  • Lydia Scarfò,
  • 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,
  • Stefania Bortoluzzi

摘要

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.