Background: Serrated polyposis syndrome (SPS) is a relatively rare disease that is characterized by multiple serrated lesions/polyps. Very little is known regarding the extracolonic cancers associated with SPS. The genetic basis of the process remains unknown.
Case summary: A 67-year-old male patient initially presented with belching and abdominal distension for a year as well as diarrhea for over 2 mo. The patient underwent colonoscopy and was diagnosed with serrated polyposis syndrome. Half a year later, a gastroscopy was performed during the postoperative re-examination to screen for other lesions of the upper gastrointestinal tract. An elevated lesion was detected in the anterior wall of the gastric antrum. Curative en bloc resection of the lesion was achieved via endoscopic submucosal dissection. The pathological result was high-grade dysplasia with focal intramucosal carcinoma. Exome sequencing was performed for the patient and five gastric cancer-associated variants (methylenetetrahydrofolate reductase, metaxin 1, coiled-coil domain containing 6, glutamate ionotropic receptor delta type subunit 1, and aldehyde dehydrogenase 1) were identified.
Conclusion: This paper reports a case that presented with both SPS and early gastric cancer. Genetic mutations that were potentially responsible for this condition were sought by exome sequencing.
Keywords: Case report; Early gastric cancer; Endoscopy; Exome sequencing; Gene mutation; Serrated polyposis syndrome.
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.