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

Celina Ang; Aryeh Stollman; Hongfa Zhu; Umut Sarpel; Bethann Scarborough; Gagan Sahni; Sherri Z. Millis

doi:10.1159/000477562

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

Celina Ang, Aryeh Stollman, Hongfa Zhu, Umut Sarpel, Bethann Scarborough, Gagan Sahni, Sherri Z. Millis

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10 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	548-552
Number of pages	5
Journal	Case Reports in Oncology
Volume	10
Issue number	2
DOIs	https://doi.org/10.1159/000477562
State	Published - 5 May 2017

Keywords

Appendiceal adenocarcinoma
GNAS mutation
Targeted therapy
Trametinib

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10.1159/000477562

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title = "Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation",

abstract = "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.",

keywords = "Appendiceal adenocarcinoma, GNAS mutation, Targeted therapy, Trametinib",

author = "Celina Ang and Aryeh Stollman and Hongfa Zhu and Umut Sarpel and Bethann Scarborough and Gagan Sahni and Millis, {Sherri Z.}",

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AU - Ang, Celina

AU - Stollman, Aryeh

AU - Zhu, Hongfa

AU - Sarpel, Umut

AU - Scarborough, Bethann

AU - Sahni, Gagan

AU - Millis, Sherri Z.

PY - 2017/5/5

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N2 - 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.

AB - 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.

KW - Appendiceal adenocarcinoma

KW - GNAS mutation

KW - Targeted therapy

KW - Trametinib

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JF - Case Reports in Oncology

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

Abstract

Keywords

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