Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom.
Centre for Evolution and Cancer, The Institute of Cancer Research, London, United Kingdom.
Cancer Res. 2019 Mar 15;79(6):1041-1043. doi: 10.1158/0008-5472.CAN-19-0305.
The FDA recently granted tissue-agnostic approval for the first-in-class TRK inhibitor larotrectinib for patients whose tumors harbor fusions in neurotrophic receptor tyrosine kinases. These fusion genes have a frequency of less than 1% in unselected patients with colorectal cancer. Using a multiomics approach and a clinically annotated cohort of patients with colorectal cancer, Cocco and colleagues showed that patients with sporadic, / wild-type, mismatch repair-deficient colorectal cancer tumors with MLH1 promoter methylation present fusions in kinase genes in 42% of cases and suggested a diagnostic framework to improve the selection of patients eligible for gene fusion testing..
美国食品和药物管理局（FDA）最近批准了首个组织不可知论者 TRK 抑制剂 larotrectinib，用于治疗肿瘤中存在神经营养受体酪氨酸激酶融合的患者。这些融合基因在未经选择的结直肠癌患者中的频率低于 1%。使用多组学方法和一个临床注释的结直肠癌患者队列，Cocco 及其同事表明，散发性、野生型、错配修复缺陷型结直肠癌患者，其 MLH1 启动子甲基化，在 42%的病例中存在激酶基因融合，并提出了一个诊断框架，以提高基因融合检测合格患者的选择。
