绒毛膜癌的遗传学起源分析

目的 通过分子遗传学起源分析鉴别绒毛膜癌的性质(妊娠性或非妊娠性),同时甄别妊娠性绒毛膜癌的成因性妊娠的性质.方法 回顾性分析12例经病理检查确诊为绒毛膜癌患者的临床资料;应用显微切割技术从蜡块组织中纯化绒毛膜癌组织,另提取患者及其丈夫的外周静脉血DNA,均应用PCR技术扩增微卫星位点,通过比较绒毛膜癌组织与患者及其丈夫DNA的扩增片段大小,确定绒毛膜癌的遗传学起源.结果 12例绒毛膜癌患者中,7例绒毛膜癌首发部位为卵巢(或性腺),但仅4例为非妊娠性绒毛膜癌,另外3例为妊娠性绒毛膜癌;5例首发部位为子宫者,经遗传学分析证实均为妊娠性绒毛膜癌.这8例妊娠性绒毛膜癌的成因性妊娠的性质分别为孤雄来源完全性葡萄胎(6例)和正常妊娠(2例).结论 通过微卫星多态性检测可以明确绒毛膜癌为妊娠性或非妊娠性,并可以明确其成因性妊娠的性质.

Genetic genesis of choriocarcinoma

Objective To distinguish choriocarcinoma from gestational or non-gestational choriocarcinoma and also identify the causative pregnancy of gestational choriocarcinoma by the genetic origin through molecular genetic analysis. Methods Twelve patients with choriocarcinoma, who had experienced surgery prior to chemotherapy were enrolled in this study. All 12 cases were diagnosed pathologically as choriocarcinoma. Peripheral venous blood samples and formalin-fixed paraffin-embedded blocks of choriocarcinoma tissue microdissected from haematoxylin and eosin-stained sections of tissue by microdissection method were available from the patient and (or) her husband. DNA was then prepared from the couples' blood samples and choriocarcinoma tissue by using standard techniques. PCR amplification and fluorescent microsatellite genotyping were performed by using DNA from the couples and captured choriocarcinoma tissues. The genetic contributions to the choriocarcinoma tissue were determined by comparing the fragments of genes from the choriocarcinoma tissue to those from blood samples of the couples. Results The primary lesion was ovary in 7 cases, but only 4 of them had the maternal contribution, indicating a non-gestational origin; the other three were gestational choriocarcinoma. The primary lesion was uterus in 5 cases, which were all gestational choriocarcinoma confirmed by genetic analyses. The causative pregnancies of the 8 cases with gestational choriocarcinoma were identified as androgenetic complete hydatidiform mole (AnCHM) in six cases and normal pregnancies in two cases, respectively. Conclusion Microsatellite polymorphism analysis is a molecular approach for distinguishing the non-gestational choriocarcinoma from the gestational one, and also be used to identify the causative pregnancy of gestational choriocarcinoma.