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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Sep 15, 2019; 11(9): 761-767
Published online Sep 15, 2019. doi: 10.4251/wjgo.v11.i9.761
Gallbladder cancer harboring ERBB2 mutation on the primary and metastatic site: A case report
Chiaki Inagaki, Daichi Maeda, Akie Kimura, Toru Otsuru, Yoshifumi Iwagami, Naohiro Nishida, Daisuke Sakai, Ryo Shitotsuki, Shinichi Yachida, Yuichiro Doki, Taroh Satoh
Chiaki Inagaki, Akie Kimura, Toru Otsuru, Naohiro Nishida, Daisuke Sakai, Taroh Satoh, Department of Frontier Science for Cancer and Chemotherapy, Osaka University Graduate School of Medicine, Suita 5650871, Osaka, Japan
Daichi Maeda, Department of Clinical Genomics, Osaka University Graduate School of Medicine, Suita 5650871, Osaka, Japan
Toru Otsuru, Yoshifumi Iwagami, Naohiro Nishida, Yuichiro Doki, Department of Gastroenterological Surgery, Osaka University Graduate School of Medicine, Suita 5650871, Osaka, Japan
Daisuke Sakai, Ryo Shitotsuki, Center for Cancer Genomics and Personalized Medicine, Osaka University Graduate School of Medicine, Suita 5650871, Osaka, Japan
Shinichi Yachida, Department of Cancer Genome Informatics, Osaka University Graduate School of Medicine, Suita 5650871, Osaka, Japan
Author contributions: Inagaki C and Satoh T collected the patients’ clinical data, reviewed the literature and drafted the manuscript; Maeda D performed pathological examination and clinical annotation of NGS sequence data and drafted the manuscript, Kimura A and Otsuru T collected the patients’ clinical data and contributed to manuscript drafting, Shirotsuki R and Yachida S performed clinical annotation of NGS sequence data and drafted the manuscript; Iwagami Y, Nishida N, Sakai D and Doki Y were contributed for the revision of the manuscript for important intellectual content, all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: Dr. Satoh reports other from Merck Serono Co., Ltd, other from Takeda Pharmaceutical Company, other from Eli Lilly and Company, other from Bristol Myers Squib, other from Yakult Honsha, other from Ono Pharmaceutical Co., Ltd, other from Chugai Pharmaceutical Co., Ltd, from null, other from Takara Bio INC, outside the submitted work.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Taroh Satoh, MD, PhD, Professor, Department of Frontier Science for Cancer and Chemotherapy, Osaka University Graduate School of Medicine, E21-19, 2-2, Yamadaoka, Suita 5650871, Osaka, Japan.
taroh@cfs.med.osaka-u.ac.jp
Telephone: +81-6-68792641Fax: +81-6-68792639
Received: May 16, 2019
Peer-review started: May 21, 2019
First decision: July 31, 2019
Revised: August 6, 2019
Accepted: August 27, 2019
Article in press: August 28, 2019
Published online: September 15, 2019
Processing time: 119 Days and 23.3 Hours
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.
Core tip: We present a case report of a patient with gallbladder cancer (GBC) harboring epidermal growth factor receptor 2 (ERBB2) hotspot extracellular domain mutation (Ser310Phe) on both the primary site and metachronous liver metastasis. Given that pathological differentiation between hepatic metastasis and primary cancer of the liver is often difficult, next-generation sequencing panel could be a novel option for patients who need to distinguish a metastatic lesion from a second malignancy, which would affect staging and the treatment strategy. This case also illustrated the benefit of the HER2-targeted agent in the treatment of GBC harboring ERBB2 activating mutation.
