Patient: 68 years – Female diagnosed with Intrahepatic Cholangiocarcinoma
Clinical Testing:
- Alterations: G12V, K700E, G386V
- Gene: KRAS, SF3B1, SMAD4
Treatment Options: MEK Inhibitor (Binimetinib) treatment can be used in this case to indirectly circumvent the impact of KRAS mutation. PD-L1 positivity is seen seen on CTCs however therapeutic responses to Immunotherapy agents have not yet been established through PD-L1 positivity on CTCs.
Indication: This is a case of Intrahepatic Cholangiocarcinoma which was first diagnosed in Aug 2022 and was treated with chemotherapy (Gemcitabine and 5 F) in Oct–Dec 2022
Research Findings: KRAS mutation (G12V) is a significantly poor prognosis-predictive biomarker in hepatobiliary cancers, especially when occurring in combination with SMAD4 and SF3B1 mutations. Alterations in the KRAS gene exhibit a gain of function effect. KRAS G12V is present in 3.47% of AACR GENIE cases, including pancreatic adenocarcinoma, lung adenocarcinoma, colon adenocarcinoma, colorectal adenocarcinoma, and rectal adenocarcinoma. Also SMAD4 loss/mutation was associated with poor prognosis and metastasis in intrahepatic biliary duct cancer.