Patient: 69 years – Male diagnosed with Adenocarcinoma-Gallbladder
Clinical Testing:
- Alterations: S310F, G12C, S45F
- Gene: ERBB2, KRAS, CTNNB1
Treatment Options: As per the NCCN recommendations ERBB2 mutations benefit from single agent HER2 blockers (Trastuzumab) or dual HER2 blockade with Trastuzumab and Pertuzumab. KRAS G12C mutation warrants benefit from Sotorasib or even from MEK inhibitors – however efficacy of the same has not been established for Gall bladder cancers.
Indication: This is a pre-treated case of Adenocarcinoma – Gallbladder.
Research Findings: The tumor has pathogenic mutations in ERBB2, KRAS and CTNNB1 genes. ERBB2 (HER2) amplification and/or overexpression, and activation has been implicated in several tumor types (Moasser, M M. 2007; Lee, Jeeyun et al.2019) and are the most frequent potentially targetable alterations in GBC (14%). The presence of the KRAS gene (Veldore, V H et al. 2014) leads to the constitutive activation of downstream signaling pathways resulting in uncontrolled cell proliferation. CTNNB1 imbalance is implicated in cancer progression and metastasis (Valenta, Tomas et al.2012) and exon 3 mutations are common in endometrioid endometrial carcinoma and melanoma (Gao,Chao et al.2017).