Department of Urology, Uro-Oncology, Robot-Assisted and Specialized Urologic Surgery, University Hospital Cologne, Cologne, Germany,
Department of Urology, University Hospital Vienna, Vienna, Austria,
Urol Int. 2021;105(7-8):720-723. doi: 10.1159/000510717. Epub 2021 Mar 17.
Ten to fifteen percent of patients with metastatic testis cancer (mGCT) will develop chemorefractory disease of which about 50% will die. We report on the integration of next generation sequencing in daily clinical practice to identify druggable mutations in metastatic lesions of 3 patients with mGCT. Mutational analysis revealed KIT D820G, TP53, and NPM1 mutations as well as mismatch repair deficiency with loss of MSH2 and MSH6 proteins so that targeted therapy with sunitinib (n = 2) or pembrolizumab (n = 1) was initiated resulting in remarkable partial remissions for 9, 12+, and 15 months.
10%至 15%的转移性睾丸生殖细胞癌（mGCT）患者将发展为化疗耐药疾病，其中约 50%的患者将死亡。我们报告了将下一代测序整合到日常临床实践中，以鉴定 3 名 mGCT 转移性病变中可用药的突变。突变分析显示 KIT D820G、TP53 和 NPM1 突变以及错配修复缺陷，导致 MSH2 和 MSH6 蛋白丢失，从而分别用舒尼替尼（n = 2）或 pembrolizumab（n = 1）进行靶向治疗，分别导致 9、12+和 15 个月的显著部分缓解。
