Clinical Benefit from Trametinib in a Patient with Appendiceal Adenocarcinoma with a GNAS R201H Mutation
| Autor: | Gagan Sahni, Hongfa Zhu, Umut Sarpel, Sherri Z. Millis, Bethann Scarborough, Aryeh L. Stollman, Celina Ang |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty medicine.medical_treatment Case Report lcsh:RC254-282 Targeted therapy 03 medical and health sciences 0302 clinical medicine Trametinib Internal medicine GNAS complex locus medicine GNAS mutation biology Molecular pathology business.industry lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Appendiceal adenocarcinoma Appendiceal Adenocarcinoma Peritoneal carcinomatosis Appendiceal neoplasms 030104 developmental biology 030220 oncology & carcinogenesis Mutation (genetic algorithm) biology.protein business |
| Zdroj: | Case Reports in Oncology Case Reports in Oncology, Vol 10, Iss 2, Pp 548-552 (2017) |
| ISSN: | 1662-6575 |
| DOI: | 10.1159/000477562 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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