Complete Response to Immunotherapy in a Patient with <i>MUTYH</i>-Associated Polyposis and Gastric Cancer: A Case Report

Abstract

MUTYH-associated polyposis syndrome is an uncommon, autosomal recessive colorectal polyposis syndrome caused by biallelic inactivation of <i>MUTYH</i>. Most patients present with multiple colorectal polyps. However, other primary tumor sites have been described as less frequent. In this report, we describe the case of a young patient with a germline biallelic pathogenic MUTYH mutation with three different primary tumors. We focused on a metastatic gastric adenocarcinoma that presented with complete bowel obstruction secondary to extensive peritoneal carcinomatosis and achieved complete response upon treatment with immunotherapy. The patient’s tumor presented with a high tumor mutational burden and a 100% combined positive score, which certainly contributed to the complete response to immunotherapy. To date, no studies have described the association of <i>MUTYH</i>-related tumors with high PD-L1 expression, but we hypothesized that it may be linked to the increased antigenicity of these cancers.