Patient subsequently underwent left radical nephrectomy. Pathology revealed a "Chromophobe-like" renal cell carcinoma. The tumor had features resembling chromophobe renal cell carcinoma, however immunohistochemical staining was not typical (negative CD117). Tumors with such features have been reported in patients with tuberous sclerosis complex, however patient did not have clinical features of TSC, such as history of seizures, mental retardation, or skin lesions. Patient underwent genetic testing which was positive for a pathogenic 1.2kb deletion of exons 13-14 in the PMS2 gene compatible with Lynch syndrome.

Key points:

• the least common main subtype of RCC

• similar to oncocytomas. Well defined with homogenous enhancement, less so than clear cell RCC, with occasional central scar

• associated with Birt-Hogg-Dube syndrome