摘要
目的:探讨短串联重复序列(short tandem repeat,STR)基因多态性检测在葡萄胎鉴别诊断中的临床应用价值。方法:收集乌鲁木齐市妇幼保健院病理科2000年至2015年间临床及病理形态学上明确诊断完全性葡萄胎(CHM)、部分性葡萄胎(PHM)和水肿性流产各40例、20例和20例。组织标本经STR基因多态性检测,STR检测包括7个多态性位点(D7S820、D13S317、D16S59、TPOX、TH01、CSF1PO、VWA),分析其在葡萄胎鉴别诊断中的作用。结果:(1)组织病理学结果:水肿性流产可见局灶绒毛组织水肿,无明显的滋养叶细胞增生;PHM可见部分区域绒毛组织水肿及滋养细胞包涵体形成,滋养叶细胞轻到中度增生;CHM可见绒毛间质明显水肿,明显的水池形成及滋养细胞明显增生。(2)STR结果显示:病理学诊断为水肿性流产的病例中每个STR位点均含有父源和母源性各1个等位基因(18/18),2例检测失败。病理诊断为PHM的病例中,单卵单精型部分性葡萄胎(MPM)和单卵双精型部分性葡萄胎(DPM)分别为2(2/19)例和14例(14/19),还有3例为均含有父源和母源性各1个等位基因3(3/19),另有1例检测失败。病理诊断为CHM的病例中,单精纯合型完全性葡萄胎(MCM)和双精杂合型完全性葡萄胎(DCM)分别为25例(25/35)和10例(10/35),另有5例检测失败。结论:组织病理对于PHM的诊断准确性不高,7个STR位点多态性分析在CHM、PHM和水肿性流产的鉴别诊断中具有重要作用。
Objective： To explore the use of STR（ short tandem repeats） analysis in the differential diagnostic of Hydatidiform Mole.Methods： 40 cases of pathological complete hydatidiform mole,20 cases of partial hydatidiform mole and 20 cases of hydropic abortus were collected from the urumqi Maternal and Child Health Hospital Department of Pathology from2000 to 2015.Tissue samples were collected for STR analysis,which included seven specific loci（ D7S820,D13S317,D16S59,TPOX,TH01,CSF1 PO,VWA）.And then the value of differential diagnosis for hydatidiform mole was further assessed. Results： Histopathologically,the hydropic abortus often revealed focal villous swelling.And the partial hydatidiform mole（ PHM） is characterized by focal trophoblastic hyperplasia and hydatidiform villous swelling.However,the complete hydatidiform mole（ CHM） usually showed obvious villous trophoblastic hyperplasia and villous swelling with pool development. In terms of STR analysis,the hydropic abortus showed balanced biallelic profiles of both paternal and maternal origins in the villous tissue（ 18 / 18）.STR analysis failed to be generated in 2wo cases of hydropic abortus. Of the 20 PHM cases,2 cases were MPM（ monospermic partial hydatidiform mole） and 14 were DPM（ dispermic partial hydatidiform mole,DPM）.Another 3 cases showed balanced biallelic profiles of both paternal and maternal origins（ 3 / 19） and the STR analysis failed to be generated in 1 case. Of the40 CHM cases,25 cases were MCM（ monospermic complete hydatidiform mole） and 10 were DCM（ dispermic complete hydatidiform mole,DCM）.The STR analysis failed to be generated in the remaining 5 cases of CHM.Conclusion： The histopathologic diagnosis of partial hydatidiform mole is still not so accurate.STR analysis including 7 sites have important role for the differential diagnosis of complete hydatidiform mole,partial hydatidiform mole and hydropic abortus.
出处
《现代妇产科进展》
CSCD
北大核心
2017年第2期124-128,共5页
Progress in Obstetrics and Gynecology
基金
乌鲁木齐市科学技术局基金(No:Y141310055)
关键词
葡萄胎
短串联重复序列
鉴别诊断
Mole
Immunohistochemistry
Short tandem repeats
Differential diagnosis
