Patient: 52 years – Female diagnosed with Signet Ring Cell Adenocarcinoma of Colon
Clinical Testing:
- Alterations: Amplification, D538G, R175H
- Gene: HER2, ESR1, TP53
Treatment Options: The presence of KRAS activating mutation may indicate sensitivity to MEK and BRAF inhibitors.
Indication: The patient was diagnosed with Ascending Colon (Signet Ring Cell Adenocarcinoma) Cancer and was treated with FOLFOX regimen.
Research Findings: A study including Indian colorectal cancer population reported 42.8% of activating mutations in the KRAS gene (Veldore, V H et al. 2014). The presence of these hotspot mutations leads to the constitutive activation of downstream signaling pathways resulting in uncontrolled cell proliferation. Also, these mutations are indicative of resistance to anti-EGFR inhibitors such as Cetuximab and Panitumumab
Notes: The tumor is positive for an activating mutation in the KRAS gene (G12V) which suggests recommending MEK and BRAF inhibitors. The tumor shows loss of function in the TP53 gene, which is associated with a worse prognosis and relatively more resistant to chemotherapy and radiation.