HIGH RISK OF GESTATIONAL TROPHOBLASTIC NEOPLASIA DEVELOPMENT IN RECURRENT HYDATIDIFORM MOLES WITH NLRP7 PATHOGENIC VARIATIONS
Kocabey M.1,a, Gulhan I.2, Koc A.1,b, Cankaya T.1, Karatasli V.2, Ileri A.3
*Corresponding Author: MD Mehmet Kocabey, Address: Güzelburc District Kıbrıs Street No: 81, 31175 Antioch/Hatay, e-mail: mehmet_kocabey@hotmail.com
page: 45

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 diseaseassociated 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.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006