Heterogenous profiles between matched primary tumors and brain metastases reveals tumor evolution

Brain metastases (BMs) are the most common central nervous system (CNS) malignant tumors, with rapid disease progression and extremely poor prognosis. The heterogeneity between primary tumors and BMs leads to the divergent efficacy of the adjuvant therapy response to primary tumors and BMs. However, the extent of heterogeneity between primary tumors and BMs, and the evolutionary process remains little known. To deeply insight the extent of inter-tumor heterogeneity at single-patient level and the process of these evolutions, we retrospectively analyzed a cohort of matched primary tumors and BMs patients. One patient underwent four times of brain metastatic lesion surgery with diverse locations and one operation for the primary lesion. The genomic between primary tumors and BMs was evaluated by utilizing the whole-exome sequencing (WESeq).

脑转移瘤（Brain metastases, BMs）是最常见的中枢神经系统（central nervous system, CNS）恶性肿瘤，病情进展迅速且预后极差。原发肿瘤与脑转移瘤之间的异质性，会导致辅助治疗对二者的应答效果存在差异。然而，目前学界对原发肿瘤与脑转移瘤之间的异质性程度以及二者的演化进程仍知之甚少。为深入解析单患者水平下的肿瘤间异质性程度及其演化过程，我们回顾性分析了一组匹配的原发肿瘤与脑转移瘤患者队列。其中1例患者先后接受了4次不同部位的脑转移瘤手术，以及1次原发肿瘤切除术。我们通过全外显子组测序（whole-exome sequencing, WESeq）对原发肿瘤与脑转移瘤的基因组特征进行了评估。