Have a personal or library account? Click to login
High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations Cover

High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations

Open Access
|May 2023

References

  1. Sharami SRY, Saffarieh E. A review on management of gestational trophoblastic neoplasia. J Fam Med Prim Care. 2020; 9: 1287–95.
  2. Ozalp SS, Oge T. Gestational trophoblastic diseases in Turkey. J Reprod Med. 2013; 58: 67–71.
  3. Ozalp SS, Telli E, Oge T, Tulunay G, Boran N, Turan T, et al. Multicenter analysis of gestational trophoblastic neoplasia in Turkey. Asian Pac J Cancer Prev. 2014; 15: 3625–8.
  4. Eagles N, Sebire NJ, Short D, Savage PM, Seckl MJ, Fisher RA. Risk of recurrent molar pregnancies following complete and partial hydatidiform moles. Hum Reprod. 2015; 30: 2055–63.
  5. Fisher RA, Maher GJ. Genetics of gestational trophoblastic disease. Best Pract Res Clin Obstet Gynaecol. 2021; 74: 29–41.
  6. Kalogiannidis I, Kalinderi K, Kalinderis M, Miliaras D, Tarlatzis B, Athanasiadis A. Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review. J Assist Reprod Genet. 2018; 35: 967–73.
  7. McKusick-Nathans Institute of Genetic Medicine. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins Univ (Baltimore, MD). October 2022 (https://www.omim.org/).
  8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17: 405–23.
  9. Ambani LM, Vaidya RA, Rao CS, Daftary SD, Motashaw ND. Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families. Clin Genet. 1980; 18: 27–9.
  10. La Vecchia C, Franceschi S, Fasoli M, Mangioni C. Gestational trophoblastic neoplasms in homozygous twins. Obstet Gynecol. 1982; 60: 250–2.
  11. Reddy R, Nguyen NMP, Sarrabay G, Rezaei M, Rivas MCG, Kavasoglu A, et al. The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. Eur J Hum Genet. 2016; 24: 1445–52.
  12. El-Maarri O, Seoud M, Coullin P, Herbiniaux U, Oldenburg J, Rouleau G, et al. Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. Hum Mol Genet. 2003; 12: 1405–13.
  13. Hashimoto K, Azuma C, Koyama M, Ohashi K, Kamiura S, Nobunaga T, et al. Loss of imprinting in choriocarcinoma. Nat Genet. 1995; 9: 109–10.
  14. Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006; 38: 300–2.
  15. Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, et al. The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Mod Pathol. 2018; 31: 1116–30.
  16. Slim R, Fisher R, Milhavet F, Hemida R, Rojas S, Rittore C, et al. Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus. Hum Mutat. 2022; 1-13.
  17. Ulker V, Gurkan H, Tozkir H, Karaman V, Ozgur H, Numanoglu C, et al. Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage? Eur J Obstet Gynecol Reprod Biol. 2013; 170: 188–92.
  18. Buyukkurt S, Fisher RA, Vardar MA, Evruke C. Heterogeneity in recurrent complete hydatidiform mole: presentation of two new Turkish families with different genetic characteristics. Placenta. 2010; 31: 1023–5.
Language: English
Page range: 45 - 50
Published on: May 2, 2023
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2023 M. Kocabey, I. Gulhan, A. Koc, T. Cankaya, V. Karatasli, A. Ileri, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.