Clinical Benefit From Trametinib in a Patient With Appendiceal Adenocarcinoma With a GNAS R201H Mutation

Case Rep Oncol. 2017 Jun 22;10(2):548-552. doi: 10.1159/000477562. eCollection May-Aug 2017.

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.

Publication types

  • Case Reports