Patient: 52 years - Male diagnosed with Adenocarcinoma Lung with Brain metastasisClinical Testing:
- Alterations: P278T, G509R, E337*, Fusion
- Gene: TP53, BRAF, NF1, CAD-ALK
Treatment Options: Osimertinib is standard of care (NCCN) for Non-small cell lung cancer with brain metastases. Mutations in EGFR indicate potential efficacy from TKIs. MSH6 gene indicates potential benefit from Immunotherapy agents. Immunotherapy (Pembrolizumab), either as a single agent or in combination with Osimertinib has shown enhanced response and progression free survival in several studies of NSCLC with brain metastasis.
Indication: This is the case of Adenocarcinoma Lung with symptomatic brain metastasis.
Research Findings: The tumor has pathogenic mutations in EGFR, MSH6, TP53 and DDR2 genes. EGFR leads to increased cell proliferation and growth and is found in a variety of tumors, including non-small cell lung cancer and colorectal cancer. According to AACR genie studies, MSH6 is altered in 2.44% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and prostate adenocarcinoma. 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. MMR mutations (MSH6) in NSCLC are statistically correlated with resistance to Cisplatin and Carboplatin.