Case Report
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Dec 14, 2016; 22(46): 10254-10259
Published online Dec 14, 2016. doi: 10.3748/wjg.v22.i46.10254
Response of BRCA1-mutated gallbladder cancer to olaparib: A case report
Yuan Xie, Yan Jiang, Xiao-Bo Yang, An-Qiang Wang, Yong-Chang Zheng, Xue-Shuai Wan, Xin-Ting Sang, Kai Wang, Da-Dong Zhang, Jia-Jia Xu, Fu-Gen Li, Hai-Tao Zhao
Yuan Xie, Xiao-Bo Yang, An-Qiang Wang, Yong-Chang Zheng, Xue-Shuai Wan, Xin-Ting Sang, Hai-Tao Zhao, Department of Liver Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Yan Jiang, Da-Dong Zhang, Jia-Jia Xu, Fu-Gen Li, Institute of Precision Medicine, 3D Medicines Inc, Shanghai 201114, China
Kai Wang, Center for Precision Medicine, Zhejiang University International Hospital, Hangzhou 310000, Zhejiang Province, China
Author contributions: Xie Y and Jiang Y contributed equally to this work; Yang XB, Wang AQ, Zheng YC, Wan XS followed up the patient; Wang K, Zhang DD, Xu JJ provided genetic analysis for the variants tested in the patient; Li FG analyzed the genetic data and revised the manuscript; Sang XT and Zhao HT provided financial support for this work; Xie Y and Jiang Y wrote the paper; all authors have read and approved the final manuscript.
Supported by International Science and Technology Cooperation Projects, No. 2015DFA30650 and No. 2010DFB33720; Capital Special Research Project for Health Development, No. 2014-2-4012; and Capital Research Project for the Characteristics Clinical Application, No. Z151100004015170.
Institutional review board statement: The publication of this manuscript has been reviewed and approved by the PUMCH institutional review board.
Informed consent statement: The patient and his family signed informed consent before gene test and drug treatment.
Conflict-of-interest statement: We declare that the authors have no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Hai-Tao Zhao, MD, Department of Liver Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan, Wangfujing, Beijing 100730, China. zhaoht@pumch.cn
Telephone: +86-10-69156042 Fax: +86-10-69156042
Received: July 31, 2016
Peer-review started: August 1, 2016
First decision: August 19, 2016
Revised: September 1, 2016
Accepted: September 28, 2016
Article in press: September 28, 2016
Published online: December 14, 2016
Processing time: 134 Days and 3.2 Hours
Abstract

Gallbladder cancer (GBC), although considered as a relatively rare malignancy, is the most common neoplasm of the biliary tract system. The late diagnosis and abysmal prognosis present challenges to treatment. The overall 5-year survival rate for metastatic GBC patients is extremely low. BRCA1 and BRCA2 are the breast cancer susceptibility genes and their mutation carriers are at a high risk for cancer development, both in men and women. Olaparib, an oral poly ADP-ribose polymerase inhibitor, has been approved by the Food and Drug Administration and the European Commission for the treatment of ovarian cancer with any BRCA1/2 mutations. The first case of a BRCA1-mutated GBC patient who responded to olaparib treatment is reported here.

Keywords: BRCA; Mutation; Olaparib; Poly ADP-ribose polymerase inhibitor; Gallbladder cancer

Core tip: Gallbladder cancer (GBC) is the most common neoplasm of the biliary tract system. BRCA1, the first major breast cancer susceptibility gene, has been widely studied in breast and ovarian cancers. Olaparib, an oral poly ADP-ribose polymerase (PARP) inhibitor, has been approved by the Food and Drug Administration and the European Commission for the treatment of ovarian cancer with any BRCA1/2 mutations. However, there is no report of a germline BRCA1 functional mutation in GBC prior to this case. Even further, the GBC with a BRCA1 mutation responded to the PARP inhibitor olaparib.