A 34-year-old Hispanic-American man initially presented to discuss management of an incidentally detected large locally advanced right solid and cystic renal mass found during an abdominal pain (x 3 days) and early satiety workup. In addition, he was noted to have new small non-painful skin nodules on his trunk and arms that had been present for several weeks. The patient is adopted and does not know his family history
A chest computed tomography scan was negative for metastatic disease. After extensive discussion he elected to proceed with a right open radical nephrectomy for definitive management. His pathology was consistent with a Stage II, pT2bN0Mx, type II papillary renal cell carcinoma.
He underwent genetic testing that revealed mutations in the fumarate hydratase gene consistent with hereditary leiomyomatosis and renal cell cancer (HLRCC).