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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Main Authors:	Celina Ang, Aryeh Stollman, Hongfa Zhu, Umut Sarpel, Bethann Scarborough, Gagan Sahni, Sherri Z. Millis
Format:	Article
Language:	English
Published:	Karger Publishers 2017-06-01
Series:	Case Reports in Oncology
Subjects:	Targeted therapy Appendiceal adenocarcinoma GNAS mutation Trametinib
Online Access:	http://www.karger.com/Article/FullText/477562

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spelling	doaj-bfaf2098cd854e7592e85e73d79650b32020-11-24T22:48:07ZengKarger PublishersCase Reports in Oncology1662-65752017-06-0110254855210.1159/000477562477562Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H MutationCelina AngAryeh StollmanHongfa ZhuUmut SarpelBethann ScarboroughGagan SahniSherri Z. MillisWe 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.http://www.karger.com/Article/FullText/477562Targeted therapyAppendiceal adenocarcinomaGNAS mutationTrametinib
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Celina Ang Aryeh Stollman Hongfa Zhu Umut Sarpel Bethann Scarborough Gagan Sahni Sherri Z. Millis
spellingShingle	Celina Ang Aryeh Stollman Hongfa Zhu Umut Sarpel Bethann Scarborough Gagan Sahni Sherri Z. Millis Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation Case Reports in Oncology Targeted therapy Appendiceal adenocarcinoma GNAS mutation Trametinib
author_facet	Celina Ang Aryeh Stollman Hongfa Zhu Umut Sarpel Bethann Scarborough Gagan Sahni Sherri Z. Millis
author_sort	Celina Ang
title	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_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_sort	clinical benefit from trametinib in a patient with appendiceal adenocarcinoma with a gnas r201h mutation
publisher	Karger Publishers
series	Case Reports in Oncology
issn	1662-6575
publishDate	2017-06-01
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.
topic	Targeted therapy Appendiceal adenocarcinoma GNAS mutation Trametinib
url	http://www.karger.com/Article/FullText/477562
work_keys_str_mv	AT celinaang clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT aryehstollman clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT hongfazhu clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT umutsarpel clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT bethannscarborough clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT gagansahni clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation AT sherrizmillis clinicalbenefitfromtrametinibinapatientwithappendicealadenocarcinomawithagnasr201hmutation
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Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation

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