Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation

We report the case of a patient with appendiceal adenocarcinoma with mucinous peritoneal carcinomatosis who was treated with trametinib upon identification of a GNAS R201H mutation by comprehensive genomic profiling. The molecular pathology of appendiceal neoplasms is reviewed, and the mechanistic b...

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Detalles Bibliográficos
Autores principales: Ang, Celina, Stollman, Aryeh, Zhu, Hongfa, Sarpel, Umut, Scarborough, Bethann, Sahni, Gagan, Millis, Sherri Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567127/
https://www.ncbi.nlm.nih.gov/pubmed/28868010
http://dx.doi.org/10.1159/000477562
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author Ang, Celina
Stollman, Aryeh
Zhu, Hongfa
Sarpel, Umut
Scarborough, Bethann
Sahni, Gagan
Millis, Sherri Z.
author_facet Ang, Celina
Stollman, Aryeh
Zhu, Hongfa
Sarpel, Umut
Scarborough, Bethann
Sahni, Gagan
Millis, Sherri Z.
author_sort Ang, Celina
collection PubMed
description We report the case of a patient with appendiceal adenocarcinoma with mucinous peritoneal carcinomatosis who was treated with trametinib upon identification of a GNAS R201H mutation by comprehensive genomic profiling. The molecular pathology of appendiceal neoplasms is reviewed, and the mechanistic basis underlying the clinical benefit as well as the subsequent course on trametinib that were observed in this patient are discussed.
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spelling pubmed-55671272017-09-01 Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation Ang, Celina Stollman, Aryeh Zhu, Hongfa Sarpel, Umut Scarborough, Bethann Sahni, Gagan Millis, Sherri Z. Case Rep Oncol Case Report We report the case of a patient with appendiceal adenocarcinoma with mucinous peritoneal carcinomatosis who was treated with trametinib upon identification of a GNAS R201H mutation by comprehensive genomic profiling. The molecular pathology of appendiceal neoplasms is reviewed, and the mechanistic basis underlying the clinical benefit as well as the subsequent course on trametinib that were observed in this patient are discussed. S. Karger AG 2017-06-22 /pmc/articles/PMC5567127/ /pubmed/28868010 http://dx.doi.org/10.1159/000477562 Text en Copyright © 2017 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
Ang, Celina
Stollman, Aryeh
Zhu, Hongfa
Sarpel, Umut
Scarborough, Bethann
Sahni, Gagan
Millis, Sherri Z.
Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title_full Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title_fullStr Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title_full_unstemmed Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title_short Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
title_sort clinical benefit from trametinib in a patient with appendiceal adenocarcinoma with a gnas r201h mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567127/
https://www.ncbi.nlm.nih.gov/pubmed/28868010
http://dx.doi.org/10.1159/000477562
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