英国伦敦大学学院癌症研究所Nicholas McGranahan小组的一项最新研究显示，ImmuneLENS是衰老和癌症中全身性免疫失调的特征。该项研究成果发表在2025年2月18日出版的《自然—遗传学》上。

研究人员提出了来自核苷酸测序（ImmuneLENS）的免疫淋巴细胞估计，该估计来自全基因组测序数据的T细胞和B细胞分数，类别切换和克隆型多样性，深度低至5倍覆盖。通过将ImmuneLENS应用于100000基因组计划，该课题组人员在富含T细胞的肿瘤中鉴定出富含体细胞突变的基因，在循环T细胞分数中存在显著的基于性别的差异，并证明癌症患者的循环T细胞分数明显低于健康个体。低循环B细胞比例与癌症发病率增加有关。最后，循环T细胞丰度比浸润T细胞更能预测5年癌症生存率。

研究人员表示，识别和消除病原体和癌细胞依赖于适应性免疫系统。因此，准确定量免疫亚群对精准医疗至关重要。

附：英文原文

Title: ImmuneLENS characterizes systemic immune dysregulation in aging and cancer

Author: Bentham, Robert, Jones, Thomas P., Black, James R. M., Martinez-Ruiz, Carlos, Dietzen, Michelle, Litovchenko, Maria, Thol, Kerstin, Watkins, Thomas B. K., Bailey, Chris, Pich, Oriol, Zhang, Zhihui, Van Loo, Peter, Swanton, Charles, McGranahan, Nicholas

Issue&Volume: 2025-02-18

Abstract: Recognition and elimination of pathogens and cancer cells depend on the adaptive immune system. Thus, accurate quantification of immune subsets is vital for precision medicine. We present immune lymphocyte estimation from nucleotide sequencing (ImmuneLENS), which estimates T cell and B cell fractions, class switching and clonotype diversity from whole-genome sequencing data at depths as low as 5× coverage. By applying ImmuneLENS to the 100,000 Genomes Project, we identify genes enriched with somatic mutations in T cell-rich tumors, significant sex-based differences in circulating T cell fraction and demonstrated that the circulating T cell fraction in patients with cancer is significantly lower than in healthy individuals. Low circulating B cell fraction was linked to increased cancer incidence. Finally, circulating T cell abundance was more prognostic of 5-year cancer survival than infiltrating T cells.

DOI: 10.1038/s41588-025-02086-5

Source: https://www.nature.com/articles/s41588-025-02086-5