论文部分内容阅读
目的在嗜铬细胞瘤散发患者中进行RET原癌基因突变筛查。方法收集42例病理诊断确诊为嗜铬细胞瘤的患者基因组DNA,其中12例为外周血基因组DNA,30例为嗜铬细胞瘤病理切片组织中提取的基因组DNA。对RET原癌基因第10和第11外显子,采用DNA测序技术进行基因突变筛查。结果在42例中,2例在RET基因的第11外显子存在基因突变。1例634位密码子由TGC突变为TAC,另1例632位密码子由GAG突变为AAG。结论在嗜铬细胞瘤患者中存在RET原癌基因突变携带者,有必要对散发的嗜铬细胞瘤患者进行RET原癌基因的常规突变筛查。
Objective To screen for RET proto-oncogene mutations in patients with pheochromocytoma disseminated. Methods Genomic DNA was collected from 42 pathologically diagnosed patients with pheochromocytoma, of which 12 were peripheral blood genomic DNA and 30 were genomic DNA extracted from pheochromocytoma histopathology. Genetic mutations were screened using DNA sequencing technology on the tenth and the eleventh exons of the RET oncogene. Results In 42 cases, 2 cases had gene mutation in exon 11 of RET gene. One case of codon 634 changed from TGC to TAC and the other case of codon 632 changed from GAG to AAG. CONCLUSIONS: RET proto-oncogene mutation carriers are present in patients with pheochromocytoma and it is necessary to routinely screen RET proto-oncogenes in patients with disseminated pheochromocytoma.