STR基因分型在葡萄胎及非葡萄胎妊娠流产诊断中的应用  

Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation

作　　者：郑兴征[1] 秦旭颖 王鹏 徐飞[1] 马建慧 王喜立[1] 陈素文[2] 冯旺琴[2] 朱力[1] 阴赖宏 吴秉铨[5] Zheng Xingzheng;Qin Xuying;Wang Peng;Xu Fei;Ma Jianhui;Wang Xili;Chen Suwen;Feng Wangqin;Zhu Li;Yin Chenghong;Wu Bingquan(Department of Pathology,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China)

机构地区：[1]首都医科大学附属北京妇产医院病理科,100006 [2]首都医科大学附属北京妇产医院生殖调节科,100006 [3]北京泰普舜康医学检验实验室 [4]首都医科大学附属首都铁路卫校基础医学组 [5]北京大学医学部基础医学院病理学系

出　　处：《中华病理学杂志》2018年第8期609-615,共7页Chinese Journal of Pathology

基　　金：北京市属医院科研培育计划项目（PX2016070）

摘　　要：目的基于短串联重复序列（short tandem repeat，STR）基因分型技术在葡萄胎与非葡萄胎妊娠鉴别诊断中的应用，侧重探讨其在非葡萄胎妊娠诊断中的应用价值及非葡萄胎妊娠的组织学特征。方法收集北京妇产医院病理科2015年7月至2017年9月临床水肿性流产和/或葡萄胎可疑的流产组织样本656例。应用Simplex OUPTM FFPE DNA组织提取试剂盒提取核酸DNA。基因分型选用PowerPlex 16 HS试剂盒。结果本研究中成功进行STR分析的有649例，包括葡萄胎妊娠215例和非葡萄胎妊娠434例。非葡萄胎妊娠中二倍体流产占大多数（375例，86.4%），各类三体共计53例（12.2%；包括2-、3-、4-、7-、8-、13-、16-、18-和21-三体），双雌单雄三倍体2例（0.5%），包括4例（0.9%）罕见的单亲同二倍体和单亲异二倍体。对组织形态学疑似葡萄胎的196例样本，经过STR分析得以精确诊断并分型。其中，59例葡萄胎低诊断为二倍体流产，28例二倍体流产过诊断为葡萄胎。将各种类型非葡萄胎妊娠的组织形态学特征与部分性葡萄胎对比分析，发现组织学特征基本无差异；此外，p57 kip2蛋白表达在部分性葡萄胎组、三体组及二倍体水肿性流产组中差异无统计学意义（P＝0.247）。结论STR分子分型技术解决了非葡萄胎妊娠与早期葡萄胎的鉴别难题，纠正了形态组织学的错误诊断，避免了非葡萄胎妊娠的过诊断问题，并通过分子分型为指导患者的个体化处置方案提供帮助。ObjectiveTo investigate the value of short tandem repeat （STR） genotyping in the diagnostic workup of molar and non-molar gestations with correlation of histological characteristics.MethodsSix hundred and fifty-six cases were selected based on clinically suspected hydropic abortion and/or molar pregnancy from July 2015 to September 2017 at Beijing Obstetrics and Gynecology Hospital. DNA was extracted from dissected chorionic villi and paired maternal endometrial FFPE tissue samples by Simplex OUP？ FFPE DNA Tissue Kit. STR genotyping was performed by PowerPlex 16 HS system.ResultsDNA genotyping was informative in 649 of 656 cases, leading to identification of 215 hydatidiform mole gestations and 434 non-molar gestations. Most of non-molar gestations （375 cases, 86.4%） were diploid hydropic abortion. Various trisomy syndromes were found （53 cases, 12.2%）, including trisomy 2, 3, 4, 7, 8, 13, 16 and 21. Only 2（0.5%） digynic triploid gestations were detected. Moreover, 4 cases （0.9%） of uniparental disomies （homologous or heterologous） were found. There were 196 cases with histologic diagnostic suspicious of hydatidiform moles were accurate sub-classified. Among them, 59 cases hydatidiform moles were under-diagnosed as diploid hydropic abortions, and 28 cases diploid hydropic abortions were over-diagnosed as hydatidiform moles.Compared with partial moles（PHM）, there were no specific histomorphological features between the various types of non-molar gestations and partial moles for definitive diagnostic separation. There was no significant difference in the expression of p57kip2 among PHM, trisomy and diploid hydropic abortions group （P=0.247）.ConclusionsSTR genotyping can distinguish non-molar gestations from early hydatidiform moles, and efficiently avoid misdiagnosis based only on histological evaluation. Therefore, using STR genotyping, not only can the overdiagnosis of non-molar pregnancy be avoided, but also individualized management can be offered to patients including monitori

关 键 词：串联重复序列 葡萄胎 分子分型 三体性 周期素依赖激酶抑制剂p57 

分 类 号：R714.21[医药卫生—妇产科学] R737.33[医药卫生—临床医学]