BC Cancer Agency, Michael Smith Genome Sciences Centre, 675 West 10th Avenue, Vancouver, BC, V5Z 1 L3, Canada.
J Pathol. 2013 Mar;229(4):515-24. doi: 10.1002/path.4105. Epub 2012 Nov 29.
High-grade serous carcinoma (HGSC) is the most common and fatal form of ovarian cancer. While most tumours are highly sensitive to cytoreductive surgery and platinum- and taxane-based chemotherapy, the majority of patients experience recurrence of treatment-resistant tumours. The clonal origin and mutational adaptations associated with recurrent disease are poorly understood. We performed whole exome sequencing on tumour cells harvested from ascites at three time points (primary, first recurrence, and second recurrence) for three HGSC patients receiving standard treatment. Somatic point mutations and small insertions and deletions were identified by comparison to constitutional DNA. The clonal structure and evolution of tumours were inferred from patterns of mutant allele frequencies. TP53 mutations were predominant in all patients at all time points, consistent with the known founder role of this gene. Tumours from all three patients also harboured mutations associated with cell cycle checkpoint function and Golgi vesicle trafficking. There was convergence of germline and somatic variants within the DNA repair, ECM, cell cycle control, and Golgi vesicle pathways. The vast majority of somatic variants found in recurrent tumours were present in primary tumours. Our findings highlight both known and novel pathways that are commonly mutated in HGSC. Moreover, they provide the first evidence at single nucleotide resolution that recurrent HGSC arises from multiple clones present in the primary tumour with negligible accumulation of new mutations during standard treatment.
高级别浆液性癌(HGSC)是卵巢癌中最常见且致命的形式。虽然大多数肿瘤对细胞减灭术和基于铂类和紫杉醇的化疗高度敏感,但大多数患者的肿瘤仍会复发且具有耐药性。与复发性疾病相关的克隆起源和突变适应性仍知之甚少。我们对 3 名接受标准治疗的 HGSC 患者的腹水肿瘤细胞在三个时间点(原发性、第一次复发和第二次复发)进行了全外显子组测序。通过与正常 DNA 进行比较,确定了体细胞点突变和小插入缺失。通过突变等位基因频率模式推断肿瘤的克隆结构和进化。在所有时间点,所有患者的 TP53 突变均占主导地位,这与该基因的已知启动子作用一致。所有 3 名患者的肿瘤还携带与细胞周期检查点功能和高尔基体囊泡运输相关的突变。在 DNA 修复、细胞外基质、细胞周期控制和高尔基体囊泡途径中,均存在种系和体细胞变异的收敛。在复发性肿瘤中发现的绝大多数体细胞变异也存在于原发性肿瘤中。我们的研究结果突出了在 HGSC 中经常发生突变的已知和新途径。此外,它们首次以单核苷酸分辨率提供证据表明,复发性 HGSC 源自原发性肿瘤中存在的多个克隆,在标准治疗期间几乎没有新突变的积累。