Clinical and molecular biological study of the von Hippel-Lindau(VHL) gene in a patient with VHL syndrome primarily presented as pheochromocytoma
ZHANG Da
DU Xin
GUAN Xiaohong
YANG Caizhe
Abstract：ObjectiveTo carry out clinical and molecular biological study for patients with clinical diagnosis of VHL syndrome.MethodsClinical data and hormone profiles were collected.VHL genotyping was performed.The exons of VHL gene of the patient were amplified and sequenced.ResultsSerum normetanephrine and 24 hour urinary norepinephrine were significantly elevated in the patients.A large right adrenal mass and multiple pancreas cysts were observed in imaging investigations.Genetic analysis revealed a heterozygous mutation was located at the third exon of the VHL gene.ConclusionVHL gene test was helpful for diagnosis of VHL syndrome for patients with pheochromocytoma whose clinical manifestation was characteristic and family history were certain.
Keywords：Pheochromocytomavon Hippel-Lindau diseaseGene test
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 133-135,142 )