短串联重复序列基因分型对部分性葡萄胎的诊断价值  

Diagnostic utility of STR genotyping for partial hydatidiform moles

作　　者：常彬[1] 卢立霞[2] 郑兴征[3] 秦旭颖 

机构地区：[1]复旦大学附属肿瘤医院病理科复旦大学上海医学院肿瘤学系,200032 [2]石河子大学医学院病理学系,832002 [3]首都医科大学附属北京妇产医院病理科 [4]北京泰普舜康医学检验所有限公司

出　　处：《中华病理学杂志》2015年第12期868-873,共6页Chinese Journal of Pathology

基　　金：国家自然科学基金-地区基金资助项目（81260104）

摘　　要：目的探讨短串联重复序列（STR）基因分型对诊断部分性葡萄胎（PHM）的临床应用价值。方法收集2007至2014年10例原组织学诊断为PHM及6例“倾向PHM”或“绒毛形态异常，PHM不能除外”病例，总结其临床病理、治疗和随访资料。对HE切片进行组织形态学观察，采用免疫组织化学染色方法检测p57蛋白的表达。提取DNA，用AmpFlSTR Identifiler TM PCR试剂盒进行15个特定位点的STR多态性和1个性别识别基因位点检测，对葡萄胎进行分子分型。结果患者年龄18～49岁（平均和中位年龄均为29岁）。16例病例组织形态学表现为高度水肿和纤维化两种形态的绒毛（7／16）、不规则形状的绒毛（13／16）、中度以上的滋养细胞增生（2／16）、绒毛水池形成（8／16）、合体滋养细胞指状突起（14／16）、滋养细胞假包涵体（6／16）和有核的胎儿红细胞（8／16）。STR基因分型结果显示16例组织学诊断为PHM、“倾向PHM”或“绒毛形态异常，PHM不能除外”病例中单精纯合完全性葡萄胎（MCM）4例、单卵双精型部分性葡萄胎（DPM）3例、水肿型流产（HA）9例。单纯依靠组织学观察诊断PHM的误诊比例为13／16。p57免疫组织化学染色显示4例MCM中3例绒毛间质细胞和细胞滋养层细胞局灶表达p57（〈5％～20％＋），1例弥漫表达p57（70％＋）；3例DPM弥漫表达p57（≥50％＋）；9例HA中7例弥漫阳性表达p57（≥50％＋），2例局灶表达p57（10％＋）。结论PHM的确诊仅依靠形态学观察和p57免疫组织化学染色有一定的误诊率，STR基因分型能够有效协助PHM病例的诊断。Objective To investigate the clinical utility of short tandem repeats （STR） genotyping technique for diagnosis of partial hydatidiform moles （PHM）. Methods Ten cases with the original diagnosis of PHM and six cases diagnosed as ＂favour PHM＂ or ＇＂ abnormal villous, PHM not excluded＂ were selected for the study. The clinical information and follow-up data were reviewed. Histopathologic features were evaluated along with p57 immunohistochemisti7. After DNA extraction from each sample, genotyping was performed by AmpFISTR IdentifilerTM PCR kit to amplify 15 STR polymorphism loci plus the amelogenin gender-determining in a single robust PCR. Results The age of patients ranged from 18 to 49 years （mean = 29 years, median = 29 years）. Two villous populations （7/16）, irregular villous contour （ 13/16 ）, at least moderate trophoblastic hyperplasia （ 2/16 ）, cistern formation （ 8/16 ）, syncytiotrophoblastic knuckles （14/16）, trophoblastic pseudoinelusions （6/16） and nucleated fetal red blood cells （8/16） were presented in these cases. Of the cases in the study, STR genotyping identified 4 monospermic complete hydatidiform moles （ MCM）, 3 dispermic partial hydatidiform moles （DPM） and 9 hydropic abortions （HA）. The misdiagnosis rate was 13/16 only relied on morphology evaluation. Immunostaining of p57 showed 3/4 of MCM were focally positive （ 〈 5% - 20% ＋ ）, 1/4 of MCM were diffusely positive（70% ＋ ）, 3/3 of DPM were diffusely positive（ ≥50% ＋ ）, 7/9 of HA were diffusely positive （ 1〉 50% ＋ ）, and 2/9 of HA were focally positive （10% ＋ ）. Conelusions Combination of histomorphologic evaluation and p57 immunostaining is insufficient for a definitive diagnosis of PHM. STR genotyping offers an accurate diagnosis of PHM.

关 键 词：葡萄胎 分子分型 免疫组织化学 诊断 鉴别 

分 类 号：R737.33[医药卫生—肿瘤]