Bell K A, Van Deerlin V, Addya K, Clevenger C V, Van Deerlin P G, Leonard D G
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA.
Mol Diagn. 1999 Mar;4(1):11-9. doi: 10.1016/s1084-8592(99)80045-9.
Diagnosis of hydatidiform mole by histology and ploidy analysis is limited by overlap of criteria for nonmolar hydropic abortion, complete mole, and partial mole. With early presentation, diagnosis is difficult due to limited tissue and lack of clinical features. Accurate diagnosis of these entities is important for both prognosis and patient management. We assessed a polymerase chain reaction (PCR) assay for polymorphic short tandem repeats (STR) for discrimination between nonmolar hydropic abortion, complete mole, and partial mole based on the genetic composition of molar pregnancies.
Seventeen cases of products of conception (POC) diagnosed by histology and flow cytometry ploidy analysis were studied retrospectively. PCR was performed using maternal and chorionic villus DNA extracted from microdissected, formalin-fixed, paraffin-embedded tissue sections. Allelic patterns for up to eight well-characterized polymorphic STR loci were determined using the GenePrint Fluorescent STR System (Promega Corporation, Madison, WI). The presence of three villus alleles at a single locus was interpreted as partial mole. Detection of only one allele in the villi, different from all maternal allele(s) at the same locus, was interpreted as a complete mole.
This technique identified eight complete moles previously diagnosed as complete mole (3), hydatidiform mole, otherwise unspecified (1), hydropic villi (2), hydropic villi versus partial mole (1), and partial mole (1). The diagnoses of five partial moles by the molecular assay were consistent with the diagnoses by histology and flow cytometry. One nonmolar gestation was identified, which had been diagnosed previously as hydropic villi. In three cases, maternal DNA amplification was insufficient for definitive diagnosis.
Molecular genetic testing of POC from paraffin-embedded tissue accurately distinguishes complete mole, partial mole, and nonmolar hydropic abortion. Identification of triploidy by flow cytometry can confirm a histological impression of partial mole. Histological and ploidy analysis of POC results in underdiagnosis of complete moles.
通过组织学和倍性分析诊断葡萄胎受到非葡萄胎性水肿流产、完全性葡萄胎和部分性葡萄胎诊断标准重叠的限制。由于早期就诊时组织有限且缺乏临床特征，诊断较为困难。准确诊断这些疾病对于预后和患者管理都很重要。我们评估了一种针对多态性短串联重复序列（STR）的聚合酶链反应（PCR）检测方法，以根据葡萄胎妊娠的基因组成区分非葡萄胎性水肿流产、完全性葡萄胎和部分性葡萄胎。
回顾性研究了17例经组织学和流式细胞术倍性分析诊断的妊娠产物（POC）病例。使用从显微切割、福尔马林固定、石蜡包埋的组织切片中提取的母体和绒毛膜绒毛DNA进行PCR。使用GenePrint荧光STR系统（Promega公司，威斯康星州麦迪逊）确定多达八个特征明确的多态性STR位点的等位基因模式。在单个位点检测到三个绒毛等位基因被解释为部分性葡萄胎。在绒毛中仅检测到一个与同一位点所有母体等位基因不同的等位基因被解释为完全性葡萄胎。
该技术鉴定出8例先前诊断为完全性葡萄胎（3例）、未明确类型的葡萄胎（1例）、水肿绒毛（2例）、水肿绒毛与部分性葡萄胎（1例）以及部分性葡萄胎（1例）的病例。分子检测诊断的5例部分性葡萄胎与组织学和流式细胞术诊断一致。鉴定出1例非葡萄胎妊娠，其先前被诊断为水肿绒毛。在3例病例中，母体DNA扩增不足以进行明确诊断。
对石蜡包埋组织中的POC进行分子遗传学检测可准确区分完全性葡萄胎、部分性葡萄胎和非葡萄胎性水肿流产。通过流式细胞术鉴定三倍体可确认部分性葡萄胎的组织学印象。对POC进行组织学和倍性分析会导致完全性葡萄胎的诊断不足。
