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首页> 外文期刊>American Journal of Surgical Pathology >Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach.
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Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach.

机译：使用p57免疫组织化学和分子基因分型对葡萄胎的诊断和分类：随着算法方法的发展，在常规和咨询实践环境中进行验证和前瞻性分析。

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摘要

Distinction of hydatidiform moles (HM) from nonmolar specimens and subclassification of HMs as complete hydatidiform mole (CHM), partial hydatidiform mole (PHM), or early CHM (eCHM) are important for clinical practice and investigational studies but diagnosis based solely on morphology suffers from poor interobserver reproducibility. Recent studies have demonstrated the use of p57 immunostaining and molecular genotyping for improving diagnosis of HMs. After performing a validation study of both techniques on 24 archival products of conception specimens (7 CHMs, 8 PHMs, 9 nonmolar), we prospectively analyzed 42 cases, largely obtained from a gynecologic pathology consultation practice, for which there was any consideration of a diagnosis of HM. After satisfactory experience with prospective cases, a modified approach was adopted, with p57 immunostaining used in conjunction with morphology to triage cases for molecular genotyping. Final diagnoses for the prospective cases based on combined morphology and ancillary testing were 24 CHMs (including 7 eCHMs), 7 PHMs, and 11 nonmolar specimens. P57 immunostaining, performed on all 66 cases, was negative in all CHMs, with the exception of 1 case of molecularly confirmed CHM with diffuse p57 expression, and positive in all PHMs and nonmolar specimens, with the exception of 3 cases of molecularly confirmed PHMs with an equivocal extent of p57 expression. Molecular genotyping of 51 cases (24 validation, 27 prospective) yielded data consistent with p57 results in the 47 cases with unequivocal p57 expression patterns and was used to establish the diagnoses for the 4 cases with aberrant or equivocal p57 results. All 17 genotyped CHMs demonstrated androgenetic diploidy, including the CHM with retained p57 expression; this case also demonstrated trisomy of chromosome 11 (retained maternal allele), accounting for the aberrant p57 expression. The remaining 14 CHMs were diagnosed by morphology and negative p57 results alone. All 15 PHMs demonstrated diandric triploidy. All genotyped nonmolar specimens demonstrated biparental diploidy. This study validates p57 immunostaining as a prospectively applicable triage assay for the diagnosis of CHMs based on morphology and a negative p57 result. Molecular genotyping is validated as a method to confirm a diagnosis of CHM by demonstrating androgenetic diploidy and to resolve p57-positive cases into diandric triploid PHMs, biparental diploid nonmolar specimens, and the rare CHM with aberrant p57 expression.
机译：从非臼齿标本中区分葡萄胎（HM）并将其细分为完整葡萄胎（CHM），部分葡萄胎（PHM）或早期CHM（eCHM）对于临床实践和研究很重要，但仅基于形态学的诊断会受到影响观察者之间的可重复性差。最近的研究表明，p57免疫染色和分子基因分型可以改善HMs的诊断。在对24种受孕标本的档案产品（7种CHM，8种PHM，9种非磨牙）进行了两种技术的验证研究后，我们对42例病例进行了前瞻性分析，这些病例大部分是从妇科病理咨询实践中获得的，因此需要考虑诊断HM。经过对前瞻性病例的满意经验后，采用了一种改良方法，将p57免疫染色与形态学结合使用，对病例进行分流，以进行分子基因分型。基于形态学和辅助检查的最终病例最终诊断为24个CHM（包括7个eCHM），7个PHM和11个非磨牙标本。在66例患者中进行的P57免疫染色在所有CHMs中均为阴性，除了1例经分子确诊的CHM弥漫性p57表达，在所有PHMs和非摩尔标本中均呈阳性，除了3例经分子确诊的PHMs阳性。 p57表达的模棱两可范围。 51例（24例验证，27例前瞻性）的分子基因分型所产生的数据与47例明确p57表达模式的p57结果一致，并被用于诊断4例异常或模棱两可的p57结果的诊断。所有17个基因型CHM均表现出雄激素二倍体，包括保留了p57表达的CHM。该病例还证实了11号染色体的三体性（保留的母体等位基因），解释了异常的p57表达。其余14种CHM仅通过形态学诊断，p57阴性。所有15个PHM都显示出二三倍体。所有基因型非磨牙标本均显示双亲二倍体。这项研究验证了p57免疫染色作为基于形态学和阴性p57结果诊断CHM的前瞻性分流测定法。通过证明雄激素二倍体，并将p57阳性病例解析为双三倍体PHM，双亲二倍体非摩尔标本和罕见的p57表达异常的CHM，分子基因分型可作为确认CHM诊断的一种方法。

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