Department of Gastroenterology, National Hospital Organization Takasaki General Medical Center, Japan.
Department of Pathology, National Hospital Organization Takasaki General Medical Center, Japan.
Intern Med. 2023 Nov 1;62(21):3151-3156. doi: 10.2169/internalmedicine.1610-23. Epub 2023 Mar 15.
A woman in her 70s presented with gallbladder carcinoma with liver metastases and peritoneal dissemination. After standard chemotherapy failed, a liver biopsy was performed. A FoundationOne CDx analysis showed that the tumor mutational burden (TMB) was high (34 mutations/megabase). Treatment with pembrolizumab, which is an immune checkpoint inhibitor (ICI), resulted in a partial response, and there were no significant immune-related adverse events. According to recently published reports, the frequency of TMB-high biliary tract cancer (BTC) is 3.4-4%, which makes it extremely rare. In conclusion, ICIs may be effective in patients with TMB-high BTC.
一位 70 多岁的女性患有胆囊癌伴肝转移和腹膜播散。标准化疗失败后,进行了肝活检。FoundationOne CDx 分析显示肿瘤突变负担(TMB)高(34 个突变/兆碱基)。用免疫检查点抑制剂(ICI)pembrolizumab 治疗后,出现部分缓解,且无明显免疫相关不良事件。根据最近的报道,TMB 高的胆道癌(BTC)的频率为 3.4-4%,极为罕见。总之,ICI 可能对 TMB 高的 BTC 患者有效。