Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases.

[von hippel-lindau disease]

Clear cell papillary renal cell carcinoma (CCPRCC ) is a renal neoplasm that has recently received widespread recognition in the literature . There have been several reports of this tumor arising in a sporadic setting and in patients with end-stage renal disease ; however , there is limited information available about the clinical , pathologic , and genetic characteristics of this tumor in the setting of von Hippel-Lindau (VHL ) disease . We herein report a series of 3 patients who developed CCPRCC in this unique clinical setting . The histology and immunohistochemical profile for all 3 cases was similar to that which has been previously reported for CCPRCC . All tumors were diffusely and strongly positive for cytokeratin 7 , negative for α-methyl-CoA-racemase , and showed at least focal staining for CD 10 . Comparative genomic analysis was performed on tumors from all 3 patients . One tumor demonstrated monosomy 3 , and the other 2 tumors showed normal chromosomal content . All 3 patients were alive without evidence of disease progression 5 , 3 , and 3 years after surgery . CCPRCC represents a distinct tumor type that may occur in the setting of VHL disease and should be considered in the differential diagnosis of extensively cystic renal tumors arising in this clinical setting . Molecular analysis in our series of cases suggests that CCPRCC does indeed represent a unique histologic subtype and must be distinguished from clear cell renal cell carcinoma due to different biological potentials . Ancillary studies for accurate classification are recommended due to significant morphologic overlap with clear cell renal cell carcinoma .