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

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A LETTER TO THE EDITOR to this article was published on 05 December 2023

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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Data availability

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.

Author information

Authors and Affiliations

  1. Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, 165 Chemin du Grand Revoyet, 69495, Pierre-Benite Cedex, France

    Marie Donzel, Lucie Gaillot-Durand, Claire Mauduit, Mojgan Devouassoux-Shisheboran & Fabienne Allias

  2. French Reference Center for Gestational Trophoblastic Diseases, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Benite, France

    Lucie Gaillot-Durand, Jacqueline Aziza, Touria Hajri, Pierre-Adrien Bolze, Jérôme Massardier, Mojgan Devouassoux-Shisheboran & Fabienne Allias

  3. Department of Pathology, University Hospital Hôtel Dieu, Nantes, France

    Madeleine Joubert

  4. Department of Pathology, Institut Universitaire du Cancer de Toulouse – Oncopole, Toulouse, France

    Jacqueline Aziza

  5. Department of Human Genetics, University Hospital Hôtel Dieu, Nantes, France

    Claire Beneteau

  6. Department of Gynecology and Obstetrics, University Hospital Hôtel Dieu, Nantes, France

    Stéphane Ploteau

  7. Department of Gynecology and Obstetrics, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Benite, France

    Pierre-Adrien Bolze

  8. Department of Gynecology and Obstetrics, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Bron, France

    Jérôme Massardier

  9. Department of Human Genetics, University Hospital, Aalborg, Denmark

    Lone Sunde

Authors
  1. Marie Donzel
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  2. Lucie Gaillot-Durand
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  3. Madeleine Joubert
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  4. Jacqueline Aziza
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  8. Touria Hajri
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  11. Mojgan Devouassoux-Shisheboran
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  12. Lone Sunde
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  13. Fabienne Allias
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Contributions

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

Corresponding author

Correspondence to Fabienne Allias.

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Ethics approval and consent to participate

This manuscript was written according to the Declaration of Helsinki. Informed consent was obtained from the patient to publish their data.

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The authors declare no competing interests.

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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

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