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).

CT kidney cystic mass

Figure 1: There is a 21 × 18 × 15 cm cystic mass with mural calcifications and peripheral soft tissue enhancing nodularity arising from the upper pole of the right kidney consistent with a complex solid and cystic mass. No evidence of regional lymphadenopathy or inferior vena cava involvement was observed.

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