Renal Medullary Carcinoma Associated with Germline NF2 Mutation

A new study describes the first reported case of germline neurofibromatosis Type 2 (NF2) associated with RMC. The patient did not have any sickle hemoglobinopathies and the tumor thus fall into the RMC subtype known as renal cell carcinoma unclassified with medullary phenotype (RCCU-MP). In accordance with current treatment recommendations, the patient received first platinum-based cytotoxic chemotherapy with cisplatin, gemcitabine and paclitaxel followed by radical nephrectomy and is currently disease-free.