Tetraploid partial hydatidiform mole

A case report and review of the literature

Kathleen M. Murphy, Cheryl Descipio, Jennifer Wagenfuehr, Sharon Tandy, Johanna Mabray, Katie Beierl, Kara Micetich, Arlene L. Libby, Brigitte Maria Ronnett

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)73-79
Number of pages7
JournalInternational Journal of Gynecological Pathology
Volume31
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Hydatidiform Mole
Tetraploidy
Microsatellite Repeats
Fluorescence In Situ Hybridization
Gestational Trophoblastic Disease
Ploidies
Chromosomes, Human, Pair 1
First Pregnancy Trimester
Chromosomes
Mothers

Keywords

  • Genotype
  • Hydatidiform mole
  • P57

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Obstetrics and Gynecology

Cite this

Tetraploid partial hydatidiform mole : A case report and review of the literature. / Murphy, Kathleen M.; Descipio, Cheryl; Wagenfuehr, Jennifer; Tandy, Sharon; Mabray, Johanna; Beierl, Katie; Micetich, Kara; Libby, Arlene L.; Ronnett, Brigitte Maria.

In: International Journal of Gynecological Pathology, Vol. 31, No. 1, 01.2012, p. 73-79.

Research output: Contribution to journalArticle

Murphy, KM, Descipio, C, Wagenfuehr, J, Tandy, S, Mabray, J, Beierl, K, Micetich, K, Libby, AL & Ronnett, BM 2012, 'Tetraploid partial hydatidiform mole: A case report and review of the literature', International Journal of Gynecological Pathology, vol. 31, no. 1, pp. 73-79. https://doi.org/10.1097/PGP.0b013e31822555b3
Murphy, Kathleen M. ; Descipio, Cheryl ; Wagenfuehr, Jennifer ; Tandy, Sharon ; Mabray, Johanna ; Beierl, Katie ; Micetich, Kara ; Libby, Arlene L. ; Ronnett, Brigitte Maria. / Tetraploid partial hydatidiform mole : A case report and review of the literature. In: International Journal of Gynecological Pathology. 2012 ; Vol. 31, No. 1. pp. 73-79.
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