ProPath, Dallas, Texas 75247, USA.
Int J Gynecol Pathol. 2012 Jan;31(1):73-9. doi: 10.1097/PGP.0b013e31822555b3.
Distinction of hydatidiform moles from nonmolar specimens and their subclassification as complete (complete hydatidiform mole) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies to refine ascertainment of risk of persistent gestational trophoblastic disease, which differs among these entities. Immunohistochemical analysis of p57 expression, a paternally imprinted maternally expressed gene on 11p15.5, and molecular genotyping are useful for improving diagnosis. Here, we describe a first trimester abortus with morphologic features consistent with a hydatidiform mole and p57 expression pattern supporting a diagnosis of PHM. Short tandem repeat (STR) genotyping and fluorescent in-situ hybridization analysis showed tetraploidy with 3 paternal and 1 maternal chromosome complements. To our knowledge, this is the first description of a tetraploid PHM confirmed to be triandric by STR analysis, and the first description of p57 immunostaining in a confirmed triandric tetraploid PHM. This case highlights the complex nature of the genetics that can be encountered in molar specimens and illustrates that STR genotyping, in contrast to fluorescent in-situ hybridization or ploidy analysis, offers the advantage of determining the parental origin of chromosome complements for refined diagnosis of hydatidiform moles.
葡萄胎与非葡萄胎标本的鉴别及其完全性（完全性葡萄胎）与部分性葡萄胎（PHM）的分类对于临床实践和研究很重要，有助于明确这些实体之间存在的持续性妊娠滋养细胞疾病的风险。11p15.5 上父源印记母源表达基因 p57 的免疫组化分析和分子基因分型有助于提高诊断准确性。本文描述了一例具有葡萄胎形态特征且 p57 表达模式支持 PHM 诊断的早期流产。短串联重复（STR）基因分型和荧光原位杂交分析显示四倍体，有 3 个父源染色体和 1 个母源染色体。据我们所知，这是首例通过 STR 分析证实为三体型的四倍体 PHM 的描述，也是首例在确诊的三体型四倍体 PHM 中进行 p57 免疫染色的描述。该病例突出了摩尔标本中可能遇到的遗传复杂性，并表明 STR 基因分型与荧光原位杂交或倍性分析相比，具有确定染色体来源的优势，有助于细化葡萄胎的诊断。
