title: Tetraploid partial hydatidiform mole:  a case report and review of the literature.
abstract: 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.
authors: ProPath, Dallas, Texas 75247, USA. Kathy.Murphy@ProPath.com
authors: Kathleen M
authors: KM
authors: Murphy
authors: Cheryl
authors: C
authors: Descipio
authors: Jennifer
authors: J
authors: Wagenfuehr
authors: Sharon
authors: S
authors: Tandy
authors: Johanna
authors: J
authors: Mabray
authors: Katie
authors: K
authors: Beierl
authors: Kara
authors: K
authors: Micetich
authors: Arlene L
authors: AL
authors: Libby
authors: Brigitte M
authors: BM
authors: Ronnett
mesh_terms: D000328:Adult; D000818:Animals; D000911:Antibodies, Monoclonal; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics / Q000378:metabolism*; D005260:Female; D018628:Gene Dosage; D060005:Genotyping Techniques; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D018895:Microsatellite Repeats / Q000235:genetics*; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D057891:Tetraploidy; D014594:Uterine Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D000911:Antibodies, Monoclonal; D050761:Cyclin-Dependent Kinase Inhibitor p57