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.
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The authors confirm that most of the data supporting the findings of this case report are available within the article and all other data are available on request from the corresponding author.
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Acknowledgements
We thank Garance Tondeur and Laurianne Brand for their technical assistance.
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MD: pathological analysis, laser-capture microdissection, drafting of the manuscript, and preparation of the final text
LGD: pathological and molecular analysis and review
MJ, JA, and MDS: pathological analysis and review
CB: FISH analysis and review
CM: molecular genotyping and review
SP, TH, PAB, and JM: clinical data, management and follow-up of the patient, and review
LS: genetic data interpretation, review, and preparation of the final text
FA: general supervision, pathological and genetic evaluation, drafting of the manuscript, and preparation of the final text
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Donzel, M., Gaillot-Durand, L., Joubert, M. et al. Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution. Virchows Arch 483, 709–715 (2023). https://doi.org/10.1007/s00428-023-03638-y
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DOI: https://doi.org/10.1007/s00428-023-03638-y