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
Descripción
Sumario: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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