Complete Response to Immunotherapy in a Patient with MUTYH-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 MUTYH. Most patients present with multiple colorectal polyps. However, other primary tumor sites have been described as less frequent. In this report, we...

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Bibliographic Details
Published in:Case reports in oncology 2023-01, Vol.16 (1), p.510-516
Main Authors: Mathias-Machado, Maria Cecilia, Peixoto, Renata D., Ashton-Prolla, Patricia, Medeiros da Silva, Leonard, Dienstmann, Rodrigo
Format: Article
Language:English
Subjects:
Cancer therapies
Case Report
Case reports
Gastric cancer
Genetic counseling
Genomes
Immunotherapy
Lymphocytes
Mutation
mutyh
Patients
Polyps
Proteins
Tumors
Yeast
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Summary:Abstract MUTYH-associated polyposis syndrome is an uncommon, autosomal recessive colorectal polyposis syndrome caused by biallelic inactivation of MUTYH. 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 MUTYH-related tumors with high PD-L1 expression, but we hypothesized that it may be linked to the increased antigenicity of these cancers.
ISSN:1662-6575
1662-6575
DOI:10.1159/000530965