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PMID (36188486)
Authors Hempel L, Lapa C, Dierks A, Gaumann A, Scheiber J, Veloso de Oliveira J, Philipp P, Oyarzun Laura C, Wesarg S, Robert S, Hempel D
Title A new promising oncogenic target (p.C382R) for treatment with pemigatinib in patients with cholangiocarcinoma.
Journal Vol Issue Date Pages Journal Short Title
Therapeutic advances in medical oncology 14 2022 17588359221125096 Ther Adv Med Oncol
URL
Abstract Text Point mutations of the fibroblast growth factor receptor (FGFR)2 receptor in intrahepatic cholangiocarcinoma (iCC) are mainly of unknown functional significance compared to FGFR2 fusions. Pemigatinib, a tyrosine kinase inhibitor, is approved for the treatment of cholangiocarcinoma with FGFR2 fusion/rearrangement. Although it is hypothesized that FGFR2 mutations may cause uncontrolled activation of the signaling pathway, the data for targeted therapies for FGFR2 mutations remain unclear. In vitro analyses demonstrated the importance of the p.C382R mutation for ligand-independent constitutive activation of FGFR2 with transforming potential. The following report describes the clinical case of a patient diagnosed with an iCC carrying a FGFR2 p.C382R point mutation which was detected in liquid, as well as in tissue-based biopsies. The patient was treated with pemigatinib, resulting in a sustained complete functional remission in fluorodeoxyglucose-positron emission tomography/computed tomography over 10 months to date. The reported case is the first description of a complete functional remission under the treatment with pemigatinib in a patient with p.C383R mutation.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 C382R intrahepatic cholangiocarcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a clinical case study, Pemazyre (pemigatinib) treatment resulted in complete metabolic remission in a patient with metastatic intrahepatic cholangiocarcinoma harboring FGFR2 C382R (PMID: 36188486). 36188486