The risk of post-molar gestational trophoblastic neoplasia is higher in heterozygous than in homozygous complete hydatidiform moles
The risk of post-molar gestational trophoblastic neoplasia is higher in heterozygous than in homozygous complete hydatidiform moles
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DOI：
10.1093/humrep/deq052
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发表时间：
2010-05-01
影响因子：
6.1
通讯作者：
Shozu, M.
中科院分区：
文献类型：
--
作者：
Baasanjav, B.;Usui, H.;Shozu, M.
完全性葡萄胎（CHM）是妊娠滋养细胞肿瘤（GTN）的高危妊娠。CHM患者有10-30%的机会出现滋养细胞后遗症。CHM包括雄激素纯合子（单精子）和雄激素杂合子（双精子）痣。杂合子CHM的GTN风险是否高于纯合子CHM仍有争议。本研究采用短串联重复序列（STR）多态性和荟萃分析对28例连续妊娠的磨牙患者进行前瞻性队列研究，评估纯合子和杂合子CHM患者发生GTN的风险。根据国际妇产科联合会2000系统诊断为持续性GTN。根据磨牙组织和父母血液的STR基因多态性来确定葡萄胎的细胞发生。采用Mantel-Haenszel方法对既往报道的GTN发生率进行荟萃分析，在28例葡萄胎妊娠中，24例为纯合子CHM，3例为杂合子CHM。其余的是二倍体三倍体（部分性葡萄胎）。在24例纯合子CHM中，6例（25%）发生GTN并接受化疗。同时，所有3例（100%）杂合子痣发展为GTN，需要化疗。GTN的风险是高杂合子（P = 0.029，Fisher精确检验）比纯合子痣。一项系统回顾显示只有5个先前的报告（超过15例细胞遗传学诊断病例），杂合子型葡萄胎持续性GTN的合并相对风险不显著（比值比，2.0; 95%置信区间，0.98-4.07）。杂合子型CHM比纯合子型CHM有更高的GTN风险。
Complete hydatidiform mole (CHM) is a high-risk pregnancy for gestational trophoblastic neoplasia (GTN). Patients with CHM have a 10-30% chance of trophoblastic sequelae. CHM includes androgenic homozygous (monospermic) and androgenic heterozygous (dispermic) moles. It is controversial whether the risk of GTN is higher with heterozygous than with homozygous CHM. A prospective cohort study was conducted to assess risk of GTN in homozygous and heterozygous CHM using short tandem repeat (STR) polymorphisms, and a meta-analysis of previous reports.Twenty-eight consecutive molar pregnancies were evacuated and followed by regular hCG measurements to detect GTN. Persistent GTN was diagnosed according to the International Federation of Gynecology and Obstetrics 2000 system. Cytogenesis of the mole was determined by STR polymorphisms of molar tissue and parental blood. A meta-analysis of the GTN rate from previous reports was conducted using Mantel-Haenszel methods.Of 28 molar pregnancies, 24 were homozygous and three were heterozygous CHM. The remaining mole was diandric triploidy (a partial hydatidiform mole). Of the 24 homozygous CHMs, six (25%) cases developed GTN and received chemotherapy. Meanwhile, all three cases (100%) of heterozygous mole developed GTN and needed chemotherapy. The GTN risk was higher in heterozygous (P = 0.029, Fisher's exact test) than homozygous moles. A systematic review revealed only five previous reports (with more than 15 cytogenetically diagnosed cases), and the pooled relative risk of persistent GTN for heterozygous mole was not significant (odds ratio, 2.0; 95% confidence interval, 0.98-4.07).Heterozygous CHM had a higher risk for GTN than homozygous CHM.