Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.
OBJECTIVE
To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau (VHL) disease revealed by bilateral pheochromocytoma.


METHODS
The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members (including 3 patients) was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.


RESULTS
The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A (Arg161Gln) in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members.


CONCLUSIONS
VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.
Tong
An-li
AL
Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Zeng
Zheng-pei
ZP
Zhou
Ya-ru
YR
Yuan
Tao
T
Cao
Cai-xia
CX
Zhang
Jing
J
Li
Ming
M
D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000000981:diagnostic imaging / Q000235:genetics*
D051794:Von Hippel-Lindau Tumor Suppressor Protein