Abstract
Von Hippel-Lindau syndrome (VHLS) is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves. This review will discuss the key aspects of the current management of VHLS.
Highlights
Von Hippel-Lindau syndrome (VHLS) is a rare, but highly penetrant, autosomal dominant hereditary neoplastic disorder caused by a genetic mutation in the vhl gene that occurs in roughly 1 in 36,000 births [1]
Type 2 VHLS is further divided into A, B, and C based on the predisposition for renal involvement, classified as low risk, high risk, and no risk, respectively [3, 4]
The vhl gene is located at chromosome 3p25-p26, and contains 3 exons; over 300 germ-line mutations have been described leading to VHLS [1, 2]
Summary
Von Hippel-Lindau syndrome (VHLS) is a rare, but highly penetrant, autosomal dominant hereditary neoplastic disorder caused by a genetic mutation in the vhl gene (vhl) that occurs in roughly 1 in 36,000 births [1]. Type 1 typically carries high risk for renal involvement, high risk for CNS hemangioblastomas, and low risk for the development of pheochromocytomas [1]. Type 2 VHLS is further divided into A, B, and C based on the predisposition for renal involvement, classified as low risk, high risk, and no risk, respectively [3, 4]. Type 2A typically carries low risk for renal involvement and high risk for the development of both hemangioblastomas of the CNS and pheochromocytomas. Type 2B typically carries high risk for renal involvement, CNS hemangioblastomas, and pheochromocytomas. Type 2C typically carries very low risk for renal involvement, low risk for CNS hemangioblastomas and high risk for pheochromocytomas [1]. This review will discuss the implications of renal involvement in VHLS and only include VHLS type 1, type 2A, and type 2B
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