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Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation

Synchronous colorectal cancer is a rare subtype of colorectal carcinoma defined by the presence of 2 or more primary tumors simultaneously or within 6 months of initial detection. The overall impact of a synchronous presentation on prognosis is not yet clear. Surgical resection is the primary treatm...

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Detalles Bibliográficos
Autores principales: Mathavan, Mohit, Mathavan, Akash, Mathavan, Akshay, Altshuler, Ellery
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421004/
https://www.ncbi.nlm.nih.gov/pubmed/36017985
http://dx.doi.org/10.1177/23247096221121406
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author Mathavan, Mohit
Mathavan, Akash
Mathavan, Akshay
Altshuler, Ellery
author_facet Mathavan, Mohit
Mathavan, Akash
Mathavan, Akshay
Altshuler, Ellery
author_sort Mathavan, Mohit
collection PubMed
description Synchronous colorectal cancer is a rare subtype of colorectal carcinoma defined by the presence of 2 or more primary tumors simultaneously or within 6 months of initial detection. The overall impact of a synchronous presentation on prognosis is not yet clear. Surgical resection is the primary treatment. However, higher rates of local recurrence and metastasis in synchronous colorectal cancer demand greater exploration of the role of adjuvant therapy. The increased frequency of microsatellite instability observed in synchronous colorectal cancer also affects therapy selection. Similarly, activating PIK3CA mutations are regularly noted in colorectal cancer, but their role in a synchronous presentation has not yet been described. We report a case of a young patient with a synchronous recto-sigmoid colorectal carcinoma complicated by microsatellite instability and an activating PIK3CA mutation—a presentation as of yet unreported in literature. We also review the impact of these molecular events on the efficacy of several chemotherapies and targeted therapies.
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spelling pubmed-94210042022-08-30 Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation Mathavan, Mohit Mathavan, Akash Mathavan, Akshay Altshuler, Ellery J Investig Med High Impact Case Rep Case Report Synchronous colorectal cancer is a rare subtype of colorectal carcinoma defined by the presence of 2 or more primary tumors simultaneously or within 6 months of initial detection. The overall impact of a synchronous presentation on prognosis is not yet clear. Surgical resection is the primary treatment. However, higher rates of local recurrence and metastasis in synchronous colorectal cancer demand greater exploration of the role of adjuvant therapy. The increased frequency of microsatellite instability observed in synchronous colorectal cancer also affects therapy selection. Similarly, activating PIK3CA mutations are regularly noted in colorectal cancer, but their role in a synchronous presentation has not yet been described. We report a case of a young patient with a synchronous recto-sigmoid colorectal carcinoma complicated by microsatellite instability and an activating PIK3CA mutation—a presentation as of yet unreported in literature. We also review the impact of these molecular events on the efficacy of several chemotherapies and targeted therapies. SAGE Publications 2022-08-26 /pmc/articles/PMC9421004/ /pubmed/36017985 http://dx.doi.org/10.1177/23247096221121406 Text en © 2022 American Federation for Medical Research https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Mathavan, Mohit
Mathavan, Akash
Mathavan, Akshay
Altshuler, Ellery
Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title_full Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title_fullStr Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title_full_unstemmed Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title_short Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation
title_sort synchronous recto-sigmoid colorectal carcinomas with microsatellite instability and an activating pik3ca mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421004/
https://www.ncbi.nlm.nih.gov/pubmed/36017985
http://dx.doi.org/10.1177/23247096221121406
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