[Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma].
OBJECTIVE
To screen the mutations of RET proto-oncogene in sporadic patients with pheochromocytoma.


METHODS
Forty-two cases of sporadic pheochromocytoma were tested for mutations of RET gene. Of these 42 DNA samples, 12 were extracted from peripheral blood cells and 30 from paraffin-embedded pheochromocytoma specimens. The PCR product of exon 10 and exon 11 was used to molecular analysis of the RET proto-oncogene.


RESULTS
Among 42 patients, 2 were found to have RET gene mutations. One of mutations located at codon 634 (TGC>TAC) in exon 11 of RET proto-oncogene. Another one located at codon 632 (GAG>AAG).


CONCLUSIONS
Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.
Han
Zhan-ying
ZY
Shanghai Institute of Hypertension, Ruijin Hospital, Medical College, Shanghai Jiaotong University, Shanghai, 200025 PR China.
Qiu
Chun-guang
CG
Chen
Qing-hua
QH
Zhu
Yu
Y
Zhu
Ding-liang
DL
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret