Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Abstract Background Von Hippel–Lindau (VHL) syndrome is a familial cancer caused by mutations in VHL gene. It characterized the formation of benign and malignant tumors like retinal angioma, cerebellar hemangioblastoma, spinal renal cell carcinoma, pheochromocytoma, pancreatic cysts, endolymphatic sac tumors. Germline gene have also been reported isolated VHL-associated small with 3 coding exons can be easily tested even resource constraint setting. Objective To describe clinical presentation estimate diagnostic yield Methods This descriptive study hospital Here, we molecular data 69 patients suspected or having Sanger sequencing sequences conserved splice sites were done all patients. Multiplex ligation-dependent probe amplification (MLPA) to detect large deletions/duplications was performed for 18 no pathogenic sequence variations. Results Among tumor types at presentation, pheochromocytoma seen 49% (34/69), hemangioblastoma 30% (21/69), carcinoma 7% (5/69). Rest had other paraganglioma, papillary tumors, astrocytoma cyst. Seven (10%) more than one time diagnosis. Pathogenic variations identified 31probands sequencing; missense, 2 nonsense indels. A heterozygous deletion exon detected MLPA patient among whom done. Overall, 46% cases (32/69). Family history present 7 mutation positive (22%). 11 families (16%) opted pre-symptomatic testing family. Conclusions Mutation indicated The facility easy adopted developing countries India. good, fairly high incidence cases, help surveillance.