A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the beta -domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also carries the same mutation. Similar to other mutations localized in the same codon, the Gly104Val VHL mutation seems to have an attenuated disease phenotype.
Rich
Thereasa A
TA
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030-4009, USA.
Jonasch
Eric
E
Matin
Surena
S
Waguespack
Steven G
SG
Gombos
Dan S
DS
Santarpia
Libero
L
Stolle
Catherine
C
Jimenez
Camilo
C
D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D000315:Adrenalectomy; D018674:Adrenergic Antagonists / Q000627:therapeutic use; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D017354:Point Mutation; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
D018674:Adrenergic Antagonists; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human