title: Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping.
abstract: Immunohistochemical analysis of cyclin-dependent kinase inhibitor 1C (CDKN1C, p57, Kip2) expression and molecular genotyping accurately classify hydatidiform moles into complete and partial types and distinguish these from non-molar specimens. Characteristics of a prospective series of all potentially molar specimens encountered in a large gynecologic pathology practice are summarized. Initially, all specimens were subjected to both analyses; this was later modified to triage cases for genotyping based on p57 results: p57-negative cases diagnosed as complete hydatidiform moles without genotyping; all p57-positive cases genotyped. Of the 678 cases, 645 were definitively classified as complete hydatidiform mole (201), partial hydatidiform mole (158), non-molar (272), and androgenetic/biparental mosaic (14); 33 were unsatisfactory, complex, or problematic. Of the 201 complete hydatidiform moles, 104 were p57-negative androgenetic and an additional 95 were p57-negative (no genotyping), 1 was p57-positive (retained maternal chromosome 11) androgenetic, and 1 was p57-non-reactive androgenetic; 90 (85%) of the 106 genotyped complete hydatidiform moles were monospermic and 16 were dispermic. Of the 158 partial hydatidiform moles, 155 were diandric triploid, with 154 p57-positive, 1 p57-negative (loss of maternal chromosome 11), and 1 p57-non-reactive; 3 were triandric tetraploid, with 2 p57-positive and 1 p57-negative (loss of maternal chromosome 11). Of 155 diandric triploid partial hydatidiform moles, 153 (99%) were dispermic and 2 were monospermic. Of the 272 non-molar specimens, 259 were p57-positive biparental diploid, 5 were p57-positive digynic triploid, 2 were p57-negative biparental diploid (no morphological features of biparental hydatidiform mole), and 6 were p57-non-reactive biparental diploid. Of the 14 androgenetic/biparental mosaics with discordant p57 expression, 6 were uniformly mosaic and 8 had a p57-negative androgenetic molar component. p57 expression is highly correlated with genotyping, serves as a reliable marker for diagnosis of complete hydatidiform moles, and identifies androgenetic cell lines in mosaic conceptions. Cases with aberrant and discordant p57 expression can be correctly classified by genotyping.
authors.affiliation: Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Natalie
authors.initials: N
authors.lastname: Banet
authors.affiliation: 1] Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA [2] Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Cheryl
authors.initials: C
authors.lastname: DeScipio
authors.affiliation: ProPath, Dallas, TX, USA.
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Murphy
authors.affiliation: Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Katie
authors.initials: K
authors.lastname: Beierl
authors.affiliation: Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: Adams
authors.affiliation: 1] Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA [2] Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Russell
authors.initials: R
authors.lastname: Vang
authors.affiliation: 1] Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA [2] Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
authors.forename: Brigitte M
authors.initials: BM
authors.lastname: Ronnett
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis*; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics* / Q000378:metabolism; D007150:Immunohistochemistry; D011247:Pregnancy; D014594:Uterine Neoplasms / Q000235:genetics* / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57