Abstract
Objective: To explore the common mutation gene and mutation rule of cholangiocarcinoma and gallbladder cancer, and to confirm the therapeutic effect of PD1 inhibitor through follow-up. Method: From 2017 to 2019, 42 patients with intrahepatic cholangiocarcinoma (ICCA), 49 patients with extrahepatic cholangiocarcinoma (ECCA) and 40 patients with GBC were followed up in Eastern Hepatobiliary Hospital for new generation sequencing (NGS). And we also followed up 25 cases of cholangiocarcinoma with PD1 inhibitor and observed the therapeutic effect. Result: The result show that TP53, KRAS, ARID1A, CDKN2A, SMAD4 and ERBB are the most common mutations in ICCA. TP53, KRAS, CDKN2A, ARID2, SMAD4 and ARID1A are the most common mutations in ECCA. TP53, ERBB,CDKN2A, ARID1A, CCNE1 are the most common mutations in GBC. 25 patients who used PD1 inhibitors had no complete remission, 6 patients had partial remission, 6 patients had no effect at all, and the disease progressed. The objective remission rate reached 24% and progression free survival was 5.2±4.8 months. Conclusion: TP53, ARID1A, CDKN2A are the most common mutations in CCA or GBC. We believe that through continuous clinical trials, we will find drugs to inhibit these mutations. PD-1 inhibitor can be used as a choice for patients with advanced stage of CCA or GBC, but not all of them have good therapeutic effect. It is suggested to combine other methods for treatment.
Highlights
CCA and GBC are high degree of malignancy tumors
Compared with traditional treatments focusing on the primary site of tumors, precision medicine is dedicated to identifying operable genetic changes
Through the observation of patients using PD-1 inhibitor for nearly half a year, we found that the progression free survival period and overall survival rate of patients were prolonged
Summary
CCA and GBC are high degree of malignancy tumors. They have metastasized distantly through hepatoduodenal ligament lymph nodes. Surgical resection is the only way to cure CCA and GBC, but about 60% of patients lose the chance of surgery and insensitive to conventional chemotherapy [1]. CCA and GBC usually involves a variety of genetic changes, but only one or several genetic changes are responsible for tumorigenesis. These are known as "driver mutations" and the other "passenger mutations" [3]. This paper mainly discusses the characteristics of common mutation genes in CCA and GBC and the effect of PD1 inhibitor
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