Published online Jan 16, 2018. doi: 10.12998/wjcc.v6.i1.1
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
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.
Patient was asymptomatic at diagnosis.
The differential diagnosis included spontaneous gastric cancer reoccurrence or a hereditary gastric cancer syndrome.
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.
Endoscopic ultrasound revealed no submucosal or mucosal aberrations. PET/CT imaging revealed no abnormalities suggestive of metastatic disease.
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.
There are currently other case reports of families with the CDH1 gene mutation, though none with as extensive a family pedigree.
HDGC is an inherited form of gastric cancer, with majority caused by an autosomal dominant genetic mutation in the CDH1 gene.
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.