Patient: 40 years – Female diagnosed with Renal cell carcinoma
Clinical Testing:
- Alterations: F1088Sfs2, I46Yfs24, P129Afs*3
- Gene: MSH6, BCL10, TGFBR2
Treatment Options: The MSH6 gene mutation is indicative of Mismatch Repair deficiency and hence therapeutic response to immunotherapy(Pembrolizumab). Also, Immunotherapy markers are positive, including PDL1 on IHC.
Indication: Renal cell carcinoma
Research Findings: MSH6 mutation indicates mismatch repair deficiency—immunotherapy-responsive.