Abstract:
Distinction of hydatidiform moles (HM) from non-molar (NM) specimens and subclassification of HM as complete hydatidiform mole (CHM) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies. The issue of diagnostic reproducibility is still unsolved, the lack of diagnostic accuracy based on morphology is substantial with an important interobserver variability, even between experienced gynecologic pathologists. Many ancillary techniques have been investigated in the last years to refine HM diagnosis. p57 (a paternally imprinted, maternally expressed gene) immunohistochemistry, based on the unique genetics of CHM (purely androgenetic), PHM (diandric triploid), and NM specimens (biparental, with allelic balance) can identify CHMs, which lack p57 expression because of a lack of maternal DNA. However, although its role in HM diagnosis is pivotal, it does not allow the distinction of PHM from NM specimens, both of which express p57 due to the presence of maternal DNA. Molecular genotyping, which compares villous and decidual DNA patterns to determine the parental source and ratios of polymorphic alleles, distinguishes purely androgenetic CHM from diandric triploid PHM, and both of these from NM specimens. Beyond the claim of establishing a \"diagnostic truth\", exceptions and peculiar genetic scenarios in the origin of rare CHM and PHM should be kept in mind when approaching any ancillary technique. An algorithmic approach, even in settings with limited resources, can help the pathologists in the diagnostic dilemma of diagnosis of first trimester abortions.
摘要:
将葡萄胎(HM)与非葡萄胎(NM)标本区分开来,并将HM分类为完全葡萄胎(CHM)与部分葡萄胎(PHM)对于临床实践和调查研究很重要。诊断的可重复性问题仍未解决,缺乏基于形态学的诊断准确性是实质性的,具有重要的观察者间变异性,甚至在经验丰富的妇科病理学家之间。在过去的几年中,已经研究了许多辅助技术来完善HM诊断。P57(父系印记,母体表达基因)免疫组织化学,基于CHM的独特遗传学(纯雄激素),PHM(diandric三倍体),和NM标本(双亲,具有等位基因平衡)可以识别CHMs,由于缺乏母体DNA而缺乏p57表达。然而,尽管它在HM诊断中的作用至关重要,它不允许将PHM与NM标本区分开来,由于母体DNA的存在,两者都表达p57。分子基因分型,比较绒毛和蜕膜DNA模式,以确定多态性等位基因的亲本来源和比例,将纯粹的雄激素CHM与二重三倍体PHM区分开来,这两个都来自NM标本。除了声称建立“诊断真相”之外,在使用任何辅助技术时,应牢记罕见CHM和PHM起源中的例外情况和特殊遗传情况。一种算法方法,即使在资源有限的环境中,可以帮助病理学家在妊娠早期流产的诊断困境。