Clonal trisomies 7,10 and 12, normal 3p and absence of VHL gene mutation in a clear cell tubulopapillary carcinoma of the kidney

Clear cell papillary renal cell carcinoma: differential diagnosis and extended immunohistochemical profile

“…20 Going beyond analysis of chromosome 3p and the VHL gene, a distinctive and consistent molecular-genetic alteration for clear cell papillary renal cell carcinoma has not been identified. 2,3,5,7,8 The comparative genomic hybridization study of Adam et al 3 revealed no genomic imbalance in seven tumors tested, 3 while other scattered reports have shown abnormalities at various chromosomal loci, including trisomies 10 and 12, 8 monosomies 16, 17, 20, 9 and gains at 5p, 5q, 7pq, 12pq, and 16pq, 7 by various methods. In the study of Brannon et al 19 , gene sets that were overexpressed in the small subgroup of tumors with wild-type VHL gene signatures included those related to mitochondrial metabolism and estrogen-related receptor alpha (ESRRa).…”

“…10 Mutations of the VHL (von Hippel-Lindau) gene have also been detected in multilocular cystic renal cell carcinoma. 17 In contrast, clear cell papillary renal cell carcinoma has been found to lack both of these abnormalities, 2,5,7,8 lending further support to the distinction between the two lesions. Another differential diagnostic consideration for a tumor composed of compact and acinar arrangements of clear cells with a prominent cystic component is cystic clear cell renal cell carcinoma.…”

“…11,14,15 Clear cell papillary renal cell carcinoma has been found to have gains of chromosome 7 or 17 in a small number of tumors. 2,4,8 The majority, however, have not possessed this abnormality, [2][3][4][5] and only a single tumor with gain of both chromosomes 7 and 17 has been reported. 4 Trisomy of chromosome 7 is known to be a relatively non-specific finding, seen in a variety of neoplasms and some benign conditions.…”

“…4 Trisomy of chromosome 7 is known to be a relatively non-specific finding, seen in a variety of neoplasms and some benign conditions. 8,15 A prominent cystic component is often appreciable even at the gross level. We found the cysts to be preferentially located at the periphery of the tumors, particularly at the interface between solid or compact areas of acinar architecture and the adjacent non-neoplastic renal parenchyma.…”

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

“…CD10 is variably expressed with most tumors showing focal staining [15]. Although CCPRCC shows significant morphologic overlap with CCRCC cell carcinoma, these tumors in the sporadic setting lack the characteristic molecular abnormalities and mutations of the VHL gene that are common in CCRCC [5,11,[16][17][18][19]. In a recent study by Williamson et al [16], the authors studied the morphologic and immunohistochemical characteristics of CCPRCC-like tumors in the setting of VHL disease.…”