Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 16, 2018; 6(1): 1-5
Published online Jan 16, 2018. doi: 10.12998/wjcc.v6.i1.1
Hereditary diffuse gastric cancer: One family’s story
Haley M Zylberberg, Keith Sultan, Steven Rubin
Haley M Zylberberg, Steven Rubin, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, United States
Keith Sultan, Division of Gastroenterology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Manhasset, NY 11030, United States
Steven Rubin, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Merrick, NY 11566, United States
Author contributions: Zylberberg HM, Sultan K and Rubin S designed the report; Zylberberg HM and Rubin S collected the patient’s clinical data; Zylberberg HM, Sultan K and Rubin S analyzed the data, drafted and edited the manuscript; all authors approve the final manuscript submitted and they approve the authorship list.
Informed consent statement: Informed consent was obtained from the patient by the article guarantor.
Conflict-of-interest statement: All authors declare that they have no conflicts of interest and nothing to declare.
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:
Correspondence to: Keith Sultan, MD, Assistant Professor, Division of Gastroenterology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, 300 Community Dr., Manhasset, NY 11030, United States.
Telephone: +1-516-3873990
Received: November 9, 2017
Peer-review started: November 9, 2017
First decision: November 30, 2017
Revised: December 8, 2017
Accepted: December 13, 2017
Article in press: December 13, 2017
Published online: January 16, 2018
Case characteristics

A 58-year-old male with a past medical history of gastric signet ring adenocarcinoma, treated with partial gastrectomy, presenting to our practice for triennial esophagogastroduodenoscopies (EGD) for surveillance of cancer recurrence. Patient’s family history was significant for 3 first degree relatives with gastric cancer. EGD performed showed normal appearing mucosa, though biopsy from the distal gastric body revealed adenocarcinoma with signet cells.

Clinical diagnosis

Patient was asymptomatic at diagnosis.

Differential diagnosis

The differential diagnosis included spontaneous gastric cancer reoccurrence or a hereditary gastric cancer syndrome.

Laboratory diagnosis

The patient underwent a gene panel for known mutations linked to gastrointestinal cancers. The patient tested positive for a mutation in the CDH1 gene which confirmed the presence of hereditary diffuse gastric cancer.

Imaging diagnosis

Endoscopic ultrasound revealed no submucosal or mucosal aberrations. PET/CT imaging revealed no abnormalities suggestive of metastatic disease.

Pathological diagnosis

Examination of the pathologic specimen after total gastrectomy, confirmed a 0.6-cm poorly differentiated signet ring cell carcinoma in the lesser curvature of the stomach with invasion into the lamina propria.


The patient underwent total gastrectomy. The patient encouraged genetic testing in his 21 family members, of which 12 were found to have the CDH1 gene mutation.

Related reports

There are currently other case reports of families with the CDH1 gene mutation, though none with as extensive a family pedigree.

Term explanation

HDGC is an inherited form of gastric cancer, with majority caused by an autosomal dominant genetic mutation in the CDH1 gene.

Experiences and lessons

This case highlights the importance of gathering a thorough family history, especially as it relates to gastric cancer, and encouraging genetic testing in patients who meet the International Gastric Cancer Linkage Consortium criteria.