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Recurrent Androgenetic Complete Hydatidiform Moles with p57KIP2-Positive in a Chinese Family

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Abstract

Androgenetic complete hydatidiform moles (CHMs) are associated with an increased risk of gestational trophoblastic neoplasia. P57KIP2 expression in hydatidiform moles is thought to be a powerful marker for differentiating CHMs from partial hydatidiform moles (PHMs). However, since there are so few such families clinically, very few studies have addressed the importance of p57KIP2-positive in the diagnosis and prognosis of CHM. This study aimed to emphasize the significance of the accurate diagnosis of rare CHM and careful follow-up. The classification of the hydatidiform mole was based on morphologic examination and p57KIP2 expression was determined by p57KIP2 immunohistochemical staining. Copy number variation sequencing was used to determine the genetic make-up of the mole tissues. In addition, the short tandem repeat polymorphism analysis was used to establish the parental origin of the moles. Finally, whole-exome sequencing was performed to identify the causal genetic variants associated with this case. In one Chinese family, the proband had numerous miscarriages throughout her two marriages. Morphologic evaluation and molecular genotyping accurately sub-classified two molar specimens as uniparental disomy CHM of androgenetic origin. Furthermore, p57KIP2 expression was found in cytotrophoblasts and villous stromal cells. In the tissue, there were hyperplasia trophoblastic cells and heteromorphic nuclei. In this family, no deleterious variant genes associated with recurrent CHM were detected. It is important to evaluate the prognostic value of p57KIP2 expression in androgenetic recurrent CHM. This knowledge may help to minimize erroneous diagnosis of CHMs as PHMs, as well as making us aware of the need to manage potential gestational trophoblastic neoplasia.

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Funding

This work was supported by grants from the Science Research Project of Anhui Provincial Health Commission (AHWJ2021b129) and the First Affiliated Hospital of Anhui University of Science and Technology Committee for Research and Conference Grant.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui University of Science and Technology, Anhui, 232001, China

    Ming-wei Li, Fan Li, Jin Cheng & Ping Zhou

  2. Frontier Research Center, School of Medicine, Anhui University of Science and Technology, Anhui, 232001, China

    Ming-wei Li & Fei Wang

Authors
  1. Ming-wei Li
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  2. Fan Li
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  3. Jin Cheng
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  4. Fei Wang
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  5. Ping Zhou
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Contributions

(I) Conception and design: Fei Wang, Ping Zhou. (II) Administrative support: Jing Cheng. (III) Provision of study materials or patients: Fan Li. (IV) Collection and assembly of data: Ming-wei Li. (V) Data analysis and interpretation: Ming-wei Li and Fei Wang. (VI) Manuscript writing: Ming-wei Li and Fei Wang. (VII) Final approval of manuscript: all authors.

Corresponding authors

Correspondence to Fei Wang or Ping Zhou.

Ethics declarations

Ethics Approval

This study was performed in line with the principles of the Declaration of Helsinki. The study was approved by the Local Ethical Committee ( no. ID RCB: 2020-Ethical review-14) before the first enrollment.

Consent to Participate

All patients gave their written consent to participate to this study.

Consent for Publication

All patients agreed for the publication of the data.

Conflict of Interest

The authors declare no competing interests.

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Li, Mw., Li, F., Cheng, J. et al. Recurrent Androgenetic Complete Hydatidiform Moles with p57KIP2-Positive in a Chinese Family. Reprod. Sci. 29, 1749–1755 (2022). https://doi.org/10.1007/s43032-021-00747-4

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  • DOI: https://doi.org/10.1007/s43032-021-00747-4

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