Allelic deletion of VHL gene detected in papillary tumors of the broad ligament, epididymis, and retroperitoneum in von Hippel-Lindau disease patients

Although clinically associated with von Hippel-Lindau (VHL) disease, the pa thogenesis of papillary tumors of the broad ligament, epididymis, and perit oneum arising in patients with VHL disease is not clear. The "classic" VBL- associated neoplasms, including hemangioblastoma and renal cell carcinoma, have been found to be associated with the inactivation of both VHL gene cop ies. It is not known whether a similar inactivation of the VHL gene is also responsible for the development of these uncommon VHL-associated lesions. The authors performed PCR (polymerase chain reaction) and PCR-base SSCP (si ngle-strand conformation polymorphism) analysis on five predominantly papil lary tumors in five VHL patients (one papillary cystadenoma of the broad li gament, one endometrioid cystadenoma of the broad ligament, two papillary c ystadenomas of the epididymis, one papillary tumor of the retroperitoneum) with four polymorphic markers of VHL gene (D3S1038, D3S1110, D3S2452, 104/1 05). All five tumors showed allelic loss of VHL gene. The results provide t he first genetic evidence for the role of VHL gene in the tumorigenesis of these rare benign neoplasms and confirm these tumors as phenotypic manifest ations of VHL disease.