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Abstract：
Hydatidiform moles are classified at the genetic level as androgenetic complete mole and diandric-monogynic partial mole. Conflicting data exist whether heterozygous complete moles are more aggressive clinically than homozygous complete moles. We investigated clinical outcome in a large cohort of hydatidiform moles in Chinese patients with an emphasis on genotypical correlation with post-molar gestational trophoblastic disease. Consecutive products of conceptions undergoing DNA genotyping and p57 immunohistochemistry to rule out molar gestations were included from a 5-year period at Beijing Obstetrics and Gynecology Hospital. Patient demographics and clinical follow-up information were obtained. Post-molar gestational trophoblastic disease or gestational trophoblastic neoplasia was determined by the 2002 WHO/FIGO criteria. A total of 1245 products of conceptions were classified based on genotyping results into 219 complete moles, 250 partial moles, and 776 non-molar gestations. Among 219 complete moles, 186 were homozygous/monospermic and 33 were heterozygous/dispermic. Among 250 partial moles, 246 were triploid dispermic, 2 were triploid monospermic, and 2 were tetraploid heterozygous partial moles. Among 776 non-molar gestations, 644 were diploid without chromosomal aneuploidies detectable by STR genotyping and 132 had various genetic abnormalities including 122 cases of various trisomies, 2 triploid digynic-monoandric non-molar gestations, 7 cases of possible chromosomal monosomy or uniparental disomy. Successful follow-up was achieved in 165 complete moles: post-molar gestational trophoblastic disease developed in 11.6% (16/138 cases) of homozygous complete moles and 37.0% (10/27 cases) of heterozygous complete moles. The difference between the two groups was highly significant (p = 0.0009, chi-square). None of the 218 partial moles and 367 non-molar gestations developed post-molar gestational trophoblastic disease. In conclusion, heterozygous/dispermic complete moles are clinically more aggressive with a significantly higher risk for development of post-molar gestational trophoblastic disease compared with homozygous/monospermic complete moles. Therefore, precise genotyping classification of complete moles is important for clinical prognosis and patient management.
摘要：
葡萄胎在遗传水平上分为雄激素性完全葡萄胎和二性-单性部分葡萄胎。杂合完全痣在临床上是否比纯合完全痣更具侵略性，存在矛盾的数据。我们在中国患者的大量葡萄胎队列中调查了临床结果，重点是与磨牙后妊娠滋养细胞疾病的基因型相关性。在北京妇产医院进行了为期5年的DNA基因分型和p57免疫组织化学以排除磨牙妊娠的概念的连续产物。获得患者的人口统计学和临床随访信息。磨牙妊娠后滋养细胞疾病或妊娠滋养细胞肿瘤由2002年WHO/FIGO标准确定。根据基因分型结果，总共将1245个概念产物分为219个完全痣，250部分摩尔，和776例非磨牙妊娠。在219个完全摩尔中，186个为纯合/单精子，33个为杂合/分散。在250部分摩尔中，246是三倍体分散的，2个是三倍体单精子，和2个是四倍体杂合部分痣。在776例非磨牙妊娠中，通过STR基因分型可检测到644个二倍体，没有染色体非整倍体，132个具有各种遗传异常，包括122例各种三体，2个三倍体双齿-单齿非磨牙妊娠，7例可能的染色体一体性或单亲性二体性。成功随访了165个完整痣：磨牙妊娠后滋养细胞疾病在纯合性完整痣的11.6％（16/138例）和杂合性完整痣的37.0％（10/27例）中发展。两组之间的差异非常显着（p=0.0009，卡方）。218个部分痣和367个非磨牙妊娠均未发生磨牙妊娠后滋养细胞疾病。总之,与纯合/单精子全葡萄胎相比,杂合/分散全葡萄胎在临床上更具侵袭性,发生磨牙妊娠后滋养细胞疾病的风险明显更高。因此,完整痣的精确基因分型分类对于临床预后和患者管理很重要.
