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.