Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors

This study provides definitive evidence and possible mechanisms of intra-familial phenotypic heterogeneity in VHL families, which is helpful to the update of surveillance guidelines. Introduction von Hippel-Lindau (VHL) disease (MIM 193300) is a rare autosomal dominant cancer syndrome caused by germline mutations in the VHL tumor suppressor gene (Latif et al., 1993; Lonser et al., 2003). Generally, the first VHL-related manifestation occurred in the third decade of patient’s life, and the penetrance is more than 90% by 70 years old (Ong et al., 2007; Nordstrom-O’brien et al., 2010). Patients may develop various tumor types from early childhood through adulthood, including central nervous system hemangioblastomas (CHB), retinal hemangioblastomas (RA), clear cell renal cell carcinoma (RCC), pancreatic cyst and neuroendocrine tumors (PCT), pheochromocytomas (PHEO), endolymphatic sac tumors (ELST), epididymal, and broad ligament cystadenomas (Walther and Linehan, 1996; Lonser et al., 2003, 2004; Butman et al., 2008). The VHL gene is located on chromosome 3p25–26 and codes for VHL protein (pVHL), which is one of the most important tumor suppressor proteins (Gossage et al., 2015). pVHL forms an E3 ligase complex with elongation factor C and B (elongin C/B), cullin 2 (CUL2), and RING finger protein (RBX1), and is critical for the ubiquitination and proteasomal degradation of HIF-α and other proteins (Gossage et al., 2015). The accumulation of HIF-&al...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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