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Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352934/ https://www.ncbi.nlm.nih.gov/pubmed/37469678 http://dx.doi.org/10.1159/000530965 |
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author | Mathias-Machado, Maria Cecilia Peixoto, Renata D. Ashton-Prolla, Patricia Da Silva, Leonard Medeiros Dienstmann, Rodrigo |
author_facet | Mathias-Machado, Maria Cecilia Peixoto, Renata D. Ashton-Prolla, Patricia Da Silva, Leonard Medeiros Dienstmann, Rodrigo |
author_sort | Mathias-Machado, Maria Cecilia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10352934 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-103529342023-07-19 Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report Mathias-Machado, Maria Cecilia Peixoto, Renata D. Ashton-Prolla, Patricia Da Silva, Leonard Medeiros Dienstmann, Rodrigo Case Rep Oncol Case Report 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. S. Karger AG 2023-07-10 /pmc/articles/PMC10352934/ /pubmed/37469678 http://dx.doi.org/10.1159/000530965 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Report Mathias-Machado, Maria Cecilia Peixoto, Renata D. Ashton-Prolla, Patricia Da Silva, Leonard Medeiros Dienstmann, Rodrigo Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title | Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title_full | Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title_fullStr | Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title_full_unstemmed | Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title_short | Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report |
title_sort | complete response to immunotherapy in a patient with mutyh-associated polyposis and gastric cancer: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352934/ https://www.ncbi.nlm.nih.gov/pubmed/37469678 http://dx.doi.org/10.1159/000530965 |
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