150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. Out of 30 patients with familial presentation, 13 were clinically diagnosed as VHL syndrome. A 20 year old Asian Indian female presented with bilateral pheochromocytoma with pancreatic cysts. Using PCR and Sanger sequencing through peripheral blood, genetic testing confirmed a mutation at c.588_588dupA of the VHL gene. Family history is positive.

Through PCR purification and Sanger sequencing of peripheral blood (using an alcohol precipitation method), 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1. A 20 year old female was genetically confirmed with a familial mutation at c.588_588dupA of the VHL gene. She presented with bilateral pheochromocytoma. Familial/syndromic (FS) association although further family history is unknown.