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Gestational Trophoblastic Neoplasia
A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole: A Brief Report
  1. Reda Hemida, MD*,
  2. Helena van Doorn, MD, PhD† and
  3. Rosemary Fisher, PhD, FRCPath‡
  1. *Obstetrics and Gynecology, Mansoura University, Egypt;
  2. †Erasmus MC Cancer Clinic, Rotterdam, the Netherlands; and
  3. ‡Trophoblastic Disease Screening and Treatment Centre, Imperial College London, Charing Cross Campus, London, United Kingdom.
  1. Address correspondence and reprint requests to Reda Hemida, MD, Assistant Professor of Obstetrics and Gynecology, Mansoura University, Egypt. E-mail: redaelshouky@hotmail.com.

Abstract

Abstract Recurrent hydatidiform moles are defined by the occurrence of two or more molar pregnancies in the same patient. Familial recurrent hydatidiform moles (FRHM) is a rare autosomal recessive condition where women have an inherited predisposition to have molar pregnancies. Genotyping demonstrated that they are diploid and biparental. We report a case of FRHM from Egypt with a history of 6 recurrent complete moles. Sequencing of the NLPR7 gene revealed a deleterious homozygous base change in exon 2, c.197G>A, which would result in a truncated protein p.W66*. To the best of our knowledge, this mutation has not been described before.

  • Recurrent hydatidiform mole
  • Genetic mutation
  • NLRP7

https://doi.org/10.1097/IGC.0000000000000755

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    Footnotes

    • The authors declare no conflicts of interest.