Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution

Marie Donzel, Lucie Gaillot-Durand, Madeleine Joubert, Jacqueline Aziza, Claire Beneteau, Claire Mauduit, Stéphane Ploteau, Touria Hajri, Pierre-Adrien Bolze, Jérôme Massardier, Mojgan Devouassoux-Shisheboran, Lone Sunde, Fabienne Allias*

*Kontaktforfatter

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

2 Citationer (Scopus)

Abstract

Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy. Some gestations cannot be accurately classified however. We report a case with atypical pathologic and genetic findings that correspond neither to CHM nor to PHM. Two populations of villi with divergent and discordant p57 expression were observed: morphologically normal p57 + villi and molar-like p57 discordant villi with p57 + stromal cells and p57 - cytotrophoblasts. Genotyping of DNA extracted from microdissected villi demonstrated that the conceptus was an androgenetic/biparental mosaic, originating from a zygote with triple paternal contribution, and that only the p57 - cytotrophoblasts were purely androgenetic, increasing the risk of neoplastic transformation.

OriginalsprogEngelsk
TidsskriftVirchows Archiv
Vol/bind483
Udgave nummer5
Sider (fra-til)709-715
Antal sider7
ISSN0945-6317
DOI
StatusUdgivet - nov. 2023

Bibliografisk note

© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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