Microsatellite Instability, Mismatch Repair Deficiency, and BRAF Mutation in Treatment-Resistant Germ Cell Tumors
- Resource Type
- Authors
- Honecker, F; Wermann, H; Mayer, Frenchey; Gillis, Ad; Stoop, Hans; van Gurp, RJLM; Oechsle, K; Steyerberg, Ewout; Hartmann, JT; Dinjens, Winand; Oosterhuis, Wolter; Bokemeyer, C; Looijenga, LHJ (Leendert)
- Source
- Journal of Clinical Oncology, 27(13), 2129-2136. American Society of Clinical Oncology
- Subject
- congenital, hereditary, and neonatal diseases and abnormalities
SDG 3 - Good Health and Well-being
neoplasms
digestive system diseases
- Language
- ISSN
- 0732-183X
Purpose Mismatch repair (MMR) deficiency and microsatellite instability (MSI) are associated with cisplatin resistance in human germ cell tumors (GCTs). BRAF mutation (V600E) is found in MSI colorectal cancers. The role of RAS/RAF pathway mutations in GCT treatment response is unknown. Patients and Methods Two patient cohorts were investigated: 100 control GCTs (50 seminomas and 50 nonseminomas) and 35 cisplatin-based chemotherapy-resistant GCTs. MMR proteins were analyzed by immunohistochemistry, and eight microsatellite loci were examined for MSI. Tumors were assessed for specific BRAF and KRAS mutations. Results Resistant tumors showed a higher incidence of MSI than controls: 26% versus 0% in two or more loci (P