上皮性卵巢癌组织中SMAD4基因突变的检测

DETECTION OF SMAD4 GENE MUTATIONS IN EPITHELIAL OVARIAN CANCER TISSUE

目的检测上皮性卵巢癌(EOC)组织中SMAD4基因突变情况,进一步为其个体化治疗提供理论依据。方法 SMAD4基因第1、2、3、4、8、11外显子在恶性肿瘤中易发生缺失和突变,卵巢癌中第9外显子存在非同义突变。收集107例EOC石蜡组织,采用多聚酶链式反应(PCR)和Sanger测序筛查第2、8、9、11外显子基因突变情况。结果第2、3外显子连接处内含子结构域发现1例单核苷酸多态性;其余外显子中未发现突变。结论EOC中SMAD4基因第2、8、9、11外显子突变明显少见。检测SMAD4基因突变用于初筛EOC的研究仍需进一步探讨。

Objective To investigate SMAD4 gene mutations in epithelial ovarian cancer（EOC）tissue,and to provide a theoretical basis for individualized treatment. Methods The depletion and mutations of exons 1,2,3,4,8,and 11 of the SMAD4 gene are commonly seen in malignant tumor,and exon 9 has a nonsynonymous mutation in ovarian cancer.A total of 107 paraffinembedded EOC tissue samples were collected,and PCR and Sanger sequencing were performed to detect the mutations in exons 2,8,9,and 11 of the SMAD4 gene. Results A single nucleotide polymorphism was found in the intron domain between exons 2 and 3.No mutation was found in the other exons. Conclusion The mutation of exons 2,8,9,and 11 of the SMAD4 gene in EOC is rare.Further studies are needed to investigate the role of SMAD4 gene mutation detection in the primary screening for EOC.