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©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
FANCA D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature
Jeffrey Peng Huang, Johnson Lin, Chi-Yuan Tzen, Wen-Yu Huang, Chia-Chi Tsai, Chih-Jen Chen, Yen-Jung Lu, Kuei-Fang Chou, Ying-Wen Su
Jeffrey Peng Huang, Johnson Lin, Kuei-Fang Chou, Ying-Wen Su, Division of Hematology and Medical Oncology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei 10491, Taiwan
Chi-Yuan Tzen, Department of Pathology, Mackay Memorial Hospital, Taipei 10491, Taiwan
Wen-Yu Huang, Laboratory of Good Clinical Research Center, Mackay Memorial Hospital, Tamsui Branch, New Taipei City 25160, Taiwan
Chia-Chi Tsai, Department of General Surgery, Mackay Memorial Hospital, Taipei 10491, Taiwan
Chih-Jen Chen, Division of Gastroenterology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei 10491, Taiwan
Yen-Jung Lu, ACT Genomics Co., Ltd., Taipei 11494, Taiwan
Author contributions: Su YW contributed to the conception and design of the work; Huang JP, Tzen CY, and Su YW collected the patient’s clinical data and drafted the manuscript; Huang WY performed the research; Lu YJ and Su YW analyzed the data; Lin J, Tsai CC, Chen CJ and Chou KF helped to draft the manuscript; all authors read and approved the final manuscript.
Supported by the Mackay Memorial Hospital, No. MMH-106-62.
Informed consent statement: Informed consent was obtained from the patient.
Conflict-of-interest statement: All authors declare no conflict-of-interest related to this article.
Data sharing statement: No additional data are available.
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: Ying-Wen Su, MD, PhD, Doctor, Staff Physician, Division of Hematology and Medical Oncology, Department of Internal Medicine, Mackay Memorial Hospital, No. 92, Section 2, Zhongshan North Road, Taipei 10491, Taiwan.
yingwensu.5896@mmh.org.tw
Telephone: +886-2-25433535 Fax: +886-2-28098746
Received: May 21, 2018
Peer-review started: May 21, 2018
First decision: June 21, 2018
Revised: August 2, 2018
Accepted: August 24, 2018
Article in press: August 24, 2018
Published online: October 14, 2018
Processing time: 145 Days and 20 Hours
ARTICLE HIGHLIGHTS
Case characteristics
A 65-year-old man had iron deficiency anemia from the age of 48 due to gastric polyposis with recurrent upper gastrointestinal bleeding.
Clinical diagnosis
Gastric polyposis
Differential diagnosis
Clinically, differential diagnoses for gastric polyposis include familial adenomatous polyposis syndrome, inherited autosomal-dominant syndrome “Gastric Adenocarcinoma and Proximal Polyposis of the Stomach” (GAPPS), or sporadic gastric polyposis. Histologically, gastric polyps should be differentiated between benign epithelial polyps (such as hyperplastic, fundic-gland, adenomatous, and inflammatory fibrinoid polyps), gastric neuroendocrine tumors (carcinoids), gastrointestinal stromal tumors (GIST), and malignant polyps (such as adenomatous carcinoma).
Laboratory diagnosis
Iron deficiency anemia
Imaging diagnosis
Polyposis at the stomach and upper jejunum by computed tomography scan
Pathological diagnosis
He was initially diagnosed with gastric hyperplastic polyp between the ages of 48 years to 58 years, and then gastric adenocarcinoma and jejunal GIST at the age of 61 years. Through comparing the genetic events between benign and malignant gastric polyps, a germline mutation at FANCA D1359Y and several recurrent mutations in DNA methylation (TET1, V873I), the β-catenin pathway (CTNNB1, S45F) and RHO signaling pathway (PLEKHG5, R203C) were identified in the polyps with malignant transformation.
Treatment
Endoscopic polypectomy for lesions larger than 0.5-1 cm, followed by annual upper endoscopic surveillance; subtotal gastrectomy for gastric adenocarcinoma and resection of the jejunal GIST.
Experiences and lessons
The adenoma-carcinoma sequence in gastric cancer is recapitulated in the case study. Germline mutation at FANCA D1359Y is identified as a potential gastric polyposis susceptible gene.
