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KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report

A 68-year-old female patient with tenesmus and blood in the stool was admitted to the S.G. Moscati Hospital of Taranto. Investigations revealed infiltrative mucinous colon adenocarcinoma accompanied by lymph node metastases. Following surgery and adjuvant chemotherapy, computed tomography (CT) and c...

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Autores principales: Cafiero, Concetta, Re, Agnese, D'Amato, Gerardo, Surico, Pier Luigi, Surico, Giammarco, Pirrelli, Michele, Pisconti, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315173/
https://www.ncbi.nlm.nih.gov/pubmed/32595468
http://dx.doi.org/10.1159/000507882
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author Cafiero, Concetta
Re, Agnese
D'Amato, Gerardo
Surico, Pier Luigi
Surico, Giammarco
Pirrelli, Michele
Pisconti, Salvatore
author_facet Cafiero, Concetta
Re, Agnese
D'Amato, Gerardo
Surico, Pier Luigi
Surico, Giammarco
Pirrelli, Michele
Pisconti, Salvatore
author_sort Cafiero, Concetta
collection PubMed
description A 68-year-old female patient with tenesmus and blood in the stool was admitted to the S.G. Moscati Hospital of Taranto. Investigations revealed infiltrative mucinous colon adenocarcinoma accompanied by lymph node metastases. Following surgery and adjuvant chemotherapy, computed tomography (CT) and carcinoembryonic antigen screening were negative. Two years later, CT demonstrated a liver lesion. Histologic and genetic analyses confirmed the diagnosis of metastatic colorectal cancer with the coexistence of KRAS and BRAF mutations in hepatic metastases and the presence of the BRAF V600E in the primary tumour. It is unclear whether the lack of response was due to BRAF mutations, but the data suggest that mutated BRAF confers resistance to anti-epidermal growth factor receptor therapy. In our patient, BRAF mutation turned out to be a negative prognostic factor, and it may have been the cause of clinical implications for disease progression and therapeutic responses.
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spelling pubmed-73151732020-06-26 KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report Cafiero, Concetta Re, Agnese D'Amato, Gerardo Surico, Pier Luigi Surico, Giammarco Pirrelli, Michele Pisconti, Salvatore Case Rep Oncol Case Report A 68-year-old female patient with tenesmus and blood in the stool was admitted to the S.G. Moscati Hospital of Taranto. Investigations revealed infiltrative mucinous colon adenocarcinoma accompanied by lymph node metastases. Following surgery and adjuvant chemotherapy, computed tomography (CT) and carcinoembryonic antigen screening were negative. Two years later, CT demonstrated a liver lesion. Histologic and genetic analyses confirmed the diagnosis of metastatic colorectal cancer with the coexistence of KRAS and BRAF mutations in hepatic metastases and the presence of the BRAF V600E in the primary tumour. It is unclear whether the lack of response was due to BRAF mutations, but the data suggest that mutated BRAF confers resistance to anti-epidermal growth factor receptor therapy. In our patient, BRAF mutation turned out to be a negative prognostic factor, and it may have been the cause of clinical implications for disease progression and therapeutic responses. S. Karger AG 2020-06-04 /pmc/articles/PMC7315173/ /pubmed/32595468 http://dx.doi.org/10.1159/000507882 Text en Copyright © 2020 by S. Karger AG, Basel http://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
Cafiero, Concetta
Re, Agnese
D'Amato, Gerardo
Surico, Pier Luigi
Surico, Giammarco
Pirrelli, Michele
Pisconti, Salvatore
KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title_full KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title_fullStr KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title_full_unstemmed KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title_short KRAS and BRAF Concomitant Mutations in a Patient with Metastatic Colon Adenocarcinoma: An Interesting Case Report
title_sort kras and braf concomitant mutations in a patient with metastatic colon adenocarcinoma: an interesting case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315173/
https://www.ncbi.nlm.nih.gov/pubmed/32595468
http://dx.doi.org/10.1159/000507882
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