Gallbladder cancer harboring ERBB2 mutation on the primary and metastatic site: A case report  

作　　者：Chiaki Inagaki Daichi Maeda Akie Kimura Toru Otsuru Yoshifumi Iwagami Naohiro Nishida Daisuke Sakai Ryo Shitotsuki Shinichi Yachida Yuichiro Doki Taroh Satoh 

机构地区：[1]Department of Frontier Science for Cancer and Chemotherapy,Osaka University Graduate School of Medicine,Suita 5650871,Osaka,Japan [2]Department of Clinical Genomics,Osaka University Graduate School of Medicine,Suita 5650871,Osaka,Japan [3]Gastroenterological Surgery,Osaka University Graduate School of Medicine,Suita 5650871,Osaka,Japan [4]Center for Cancer Genomics and Personalized Medicine,Osaka University Graduate School of Medicine,Suita 5650871,Osaka,Japan [5]Department of Cancer Genome Informatics,Osaka University Graduate School of Medicine,Suita 5650871,Osaka,Japan

出　　处：《World Journal of Gastrointestinal Oncology》2019年第9期761-767,共7页世界胃肠肿瘤学杂志（英文版）（电子版）

摘　　要：BACKGROUND Bile duct cancer constitutes gallbladder cancer(GBC),intrahepatic cholangiocarcinoma(ICA),and extrahepatic cholangiocarcinoma(ECA).These three entities show morphological and immunohistochemical resemblance so that it is difficult to differentiate between primary ICA and liver metastasis of GBC,which sometimes becomes a point of discussion in clinical practice.Although these cancers demonstrate significant differences in their mutational landscape,several reports demonstrated shared genomic alteration in paired primary and metastatic site aids in distinguishing metastatic recurrence from second primary cancers.CASE SUMMARY We present a 73-year-old female patient who underwent curative resection for GBC harboring epidermal growth factor receptor 2(ERBB2)activating mutation on next-generation sequencing(NGS)-based genomic testing.One year later,a hepatic lesion was observed on follow-up imaging and she underwent surgical resection for a pathological diagnosis.The histological findings of the hepatic lesion were similar to those of the primary lesion.Additionally,using NGS panel testing,the hepatic lesion was found to have ERBB2 activating mutation,which is the identical mutation detected in the sequencing result of the primary site.ERBB2 activating mutation occurs more frequently in GBC than ICA and ECA.Therefore,in the present case,we think this molecular finding potentiated the diagnosis of the liver mass toward a metastatic recurrence.Additionally,this patient underwent HER2-targeted treatment with lapatinib in combination with capecitabin and obtained clinical benefit.CONCLUSION This case illustrated NGS panel usefulness in distinguishing GBC recurrence from second primary cancer and HER2-targeted agent efficacy on ERBB2 mutated GBC.BACKGROUND Bile duct cancer constitutes gallbladder cancer(GBC), intrahepatic cholangiocarcinoma(ICA), and extrahepatic cholangiocarcinoma(ECA). These three entities show morphological and immunohistochemical resemblance so that it is difficult to differentiate between primary ICA and liver metastasis of GBC,which sometimes becomes a point of discussion in clinical practice. Although these cancers demonstrate significant differences in their mutational landscape,several reports demonstrated shared genomic alteration in paired primary and metastatic site aids in distinguishing metastatic recurrence from second primary cancers.CASE SUMMARY We present a 73-year-old female patient who underwent curative resection for GBC harboring epidermal growth factor receptor 2(ERBB2) activating mutation on next-generation sequencing(NGS)-based genomic testing. One year later, a hepatic lesion was observed on follow-up imaging and she underwent surgical resection for a pathological diagnosis. The histological findings of the hepatic lesion were similar to those of the primary lesion. Additionally, using NGS panel testing, the hepatic lesion was found to have ERBB2 activating mutation, which is the identical mutation detected in the sequencing result of the primary site.ERBB2 activating mutation occurs more frequently in GBC than ICA and ECA.Therefore, in the present case, we think this molecular finding potentiated the diagnosis of the liver mass toward a metastatic recurrence. Additionally, this patient underwent HER2-targeted treatment with lapatinib in combination with capecitabin and obtained clinical benefit.CONCLUSION This case illustrated NGS panel usefulness in distinguishing GBC recurrence from second primary cancer and HER2-targeted agent efficacy on ERBB2 mutated GBC.

关 键 词：GALL bladder CANCER BILE duct CANCER ERBB2 MUTATION Precision medicine Mutation-driven targeted treatment Case report 

分 类 号：R[医药卫生]