全面研究慢性淋巴细胞白血病中的 TP53 突变：分析 1287 例诊断和 1148 例随访 CLL 样本。
A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.
机构信息
Laboratory for Molecular Diagnostics, Chambon Inc., Evropska 176/16, Prague 6, 160 00, Czech Republic.
出版信息
Leuk Res. 2011 Jul;35(7):889-98. doi: 10.1016/j.leukres.2010.12.016. Epub 2011 Jan 13.
TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10-20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.
TP53 在 DNA 修复和细胞凋亡过程中起着关键作用。在 10-20%的慢性淋巴细胞白血病（CLL）患者中，TP53 通路受到影响。在这项研究中，我们使用 FASAY（酵母中分离等位基因的功能分析）和直接测序，分析了 2435 例连续 CLL 样本（包括 1287 例诊断样本和 1148 例随访样本）中的 TP53 突变状态。在 1287 例诊断性 CLL 样本的队列中，我们鉴定出 237 例具有 TP53 变异的病例，包括突变、温度敏感变异、缺失、插入和异常剪接变异（18.4%）。在 1148 例随访样本中，未观察到 TP53 克隆进化。
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