FMS基因突变在化疗后妇女及后代检测的意义

Axamine gene FMS mutation meaning after chemotherapy woman and treir descerdant

目的：探索一种可用于了解妇科肿瘤患者及其后代受化疗影响的检测方法。方法：以部分未经化疗的妇癌患者为对照， 对部分经化疗后痊愈的患者和后代用半巢式多聚酶链反应－ 单链构象多态性分析法（Ｓｅｍｉ＿ｎｅｓｌｅｄ ＰＣＲ＿ＳＳＣＰ法） 检测ＦＭＳ基因的突变。结果：实验组４ 个标本中，１ 个取自乳腺癌患者的血清标本的ＦＭＳ９６９ 密码子出现突变，其余３ 个实验组的标本和对照组全部标本均为野生型ＦＭＳ。结论：由于在１ 例经过化疗的乳腺癌患者血清中检出ＦＭＳ９６９ 密码子突变，而其子宫肌瘤组织则为野生型，无突变。对照组无１ 例突变。说明该患者ＦＭＳ９６９ 密码子的突变并非先天遗传的，而是后天的改变，因为在其体细胞上仍呈正常的基因型。根据有关研究结果推测，这种畸变很可能是化疗药物引起的。ＦＭＳ基因突变的检测对化疗后保留生育力的患者及所生的子女的随访是有意义的。

Objective:To establish a method for monitoring of the gynecological malignancy patients with reservation of fertility and their children birthed after chemotherapy.Method:Using a semi_nested PCR SSCP technique to detect the FMS mutation in the patients and the controled group.Results:Among 4 specimens in study group,FMS mutation at codon 969 was found in a serum specimen from a patient with breast carcinoma ,treated with chemotherapy before her hysterectomy because of the diagnosis of leomyoma of the uterus .Interestingly ,wild type FMS gene was found in the leomyoma tissue of the same patients.Wild type FMS gene was also found in other 2 specimens of study group as well as in all specimens of control group.Conclusion:The mutation of FMS gene was found in serum specimen only,and the wild type of gene was found in the specimen obtained from the tissue of leomyoma from the same patient.This result implied that the mutation is acquired other than congenital,because the wild type gene was found in the body cells.According to the results of other researchers studies,the mutation should be caused by chemotherapy.Therefore,this study suggested that the detection of mutation of FMS gene may be used as a follow_up method for the patients with gynecologic malignancies cured by chemotherapy along and with reservation of fertility and their children born after the chemotherapy.However,the roll of the detection should be revaluated furthermore.