Renal Cystic Neoplasms and Renal Neoplasms Associated With Cystic Renal Diseases: Pathogenetic and Molecular Links

Abstract

Cystic renal neoplasms represent an isolated cystic mass not accompanied by cystic change of the renal parenchyma. Although cystic change may be seen in any type of renal neoplasm, a few (i.e., cystic renal cell carcinoma, cystic nephroma, cystic partially differentiated nephroblastoma, mixed epithelial and stromal tumor) are characterized by constant cystic change that may involve the entire tumor. Cystic kidney disease is characterized by cystic change, which usually involves the kidneys in a bilateral and diffuse pattern, does not create a discreet mass, and is due to hereditary or developmental conditions. Some of the cystic kidney diseases are not known to give rise to renal neoplasm; others such as autosomal polycystic kidney disease or multicystic dysplastic kidney may fortuitously coexist with renal neoplasms. Three conditions (acquired cystic kidney disease, tuberous sclerosis, and von Hippel-Lindau disease) are associated with renal neoplasms with such a high frequency that they are considered preneoplastic. This article reviews the differential diagnoses among cystic neoplasms. It also focuses on the underlying genetic and molecular mechanisms for the relationship between cystic renal diseases and renal neoplasms.

Acquired cystic disease-associated renal tumors: an immunohistochemical and fluorescence in situ hybridization study

“…[1][2][3] Clinically, these tumors differ from the sporadic variants with a younger age of presentation, greater frequency of multicentricity and bilaterality, and possibly an overall better prognosis. [1][2][3][4][5][6][7] Different types of renal cell epithelial neoplasms have been described in association with end-stage renal disease, with a high prevalence of papillary renal cell carcinomas and clear-cell renal carcinomas.…”

“…[1][2][3] Clinically, these tumors differ from the sporadic variants with a younger age of presentation, greater frequency of multicentricity and bilaterality, and possibly an overall better prognosis. [1][2][3][4][5][6][7] Different types of renal cell epithelial neoplasms have been described in association with end-stage renal disease, with a high prevalence of papillary renal cell carcinomas and clear-cell renal carcinomas. 1,3,4,[7][8][9][10][11][12] However, tumors arising in end-stage renal diseases, especially in association with acquired cystic disease, may also show distinctive histologic features not easily referable to the categories described in the current WHO classification system.…”

“…[1][2][3][4][5][6][7] Different types of renal cell epithelial neoplasms have been described in association with end-stage renal disease, with a high prevalence of papillary renal cell carcinomas and clear-cell renal carcinomas. 1,3,4,[7][8][9][10][11][12] However, tumors arising in end-stage renal diseases, especially in association with acquired cystic disease, may also show distinctive histologic features not easily referable to the categories described in the current WHO classification system. [13][14][15] These tumors are characterized by abundant eosinophilic cytoplasm, a variably solid, cribriform, tubulo-cystic and papillary architecture, and by deposits of calcium oxalate crystals.…”

Aberrant Expression of Polycystin-1 in Renal Cell Tumors

“…Concerning the role of polycystin-1 in renal tumorigenesis, no correlation between ADPKD and renal cell carcionoma (RCC) has yet been established, but the occurrence of renal carcinoma in patients with acquired polycystic kidney disease secondary to haemodyalisis is well documented (9). In the same context, bening and malignant renal neoplasms are frequently found in kidneys of patients suffering of either von Hippel-Lindau disease or of tuberous sclerosis complex (10,11).…”

“…In the same context, bening and malignant renal neoplasms are frequently found in kidneys of patients suffering of either von Hippel-Lindau disease or of tuberous sclerosis complex (10,11). On the other hand, cystic changes involving the entire tumor may be seen in various renal neoplasms, such as cystic renal cell carcinoma, cystic nephroma and partially differentiated cystic nephroblastoma (9). At the cellular level, a number of molecular anomalies were described in both sporadic RCCs and tumors related to various cystic kidney lesions including over-expression, of c-myc, bcl-2, cmet, and c-Ets oncoproteins as well as deregulated expression of growth factors (12)(13)(14)(15)(16).…”