Hydatidiform mole
Authors:
Magdaléna Daumová 1,2; Šárka Hadravská 1,2; Martina Putzová 2
Authors place of work:
Šiklův ústav patologie LFP UK a FN Plzeň
1; Bioptická laboratoř s. r. o., Plzeň
2
Published in the journal:
Čes.-slov. Patol., 59, 2023, No. 2, p. 50-54
Category:
Přehledový článek
Summary
Hydatidiform mole is the most common form of gestational trophoblastic disease. It is an abnormally formed placental tissue with characteristic changes in karyotype, arising in fertilization disorders. The presence of abundant paternal genetic information plays a key role in the pathogenesis of complete and partial hydatidiform moles. These lesions are characterized by a relatively wide spectrum of morphological changes that may not be fully expressed, especially in the early stages of pregnancy. In addition, some changes can be observed in non-molar gravidities, which, unlike hydatidiform moles, lack any risk of malignant transformation. Although conventional histological examination still plays a key role in the diagnosis, it should be supplemented by other methods that reliably differentiate individual lesions. Accurate diagnosis of molar gravidities is important not only for determining the correct therapeutic approach, but the obtained data may also contribute to further research of these pathological entities.
Keywords:
molecular genetic testing – Triploidy – Genomic imprinting – p57 – gestational trophoblastic disease – hydatidiform mole – CHM – PHM
Zdroje
1. Golfier F, Clerc J, Hajri T, et al. Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis. Hum Reprod 2011; 26(10): 2651-2657.
2. Seckl MJ, Sebire NJ, Berkowitz RS. Gestational trophoblastic disease. Lancet 2010; 376(9742): 717-729.
3. Melamed A, Gockley AA, Joseph NT, et al. Effect of race/ethnicity on risk of complete and partial molar pregnancy after adjustment for age. Gynecol Oncol 2016; 143(1): 73-76.
4. Bandy LC, Clarke-Pearson DL, Hammond CB. Malignant potential of gestational trophoblastic disease at the extreme ages of reproductive life. Obstet Gynecol 1984; 64(3): 395-399.
5. Schorge JO, Goldstein DP, Bernstein MR, Berkowitz RS. Recent advances in gestational trophoblastic disease. J Reprod Med 2000; 45(9): 692-700.
6. Gockley AA, Melamed A, Joseph NT, et al. The effect of adolescence and advanced maternal age on the incidence of complete and partial molar pregnancy. Gynecol Oncol 2016; 140(3): 470-473.
7. Soto-Wright V, Bernstein M, Goldstein DP, Berkowitz RS. The changing clinical presentation of complete molar pregnancy. Obstet Gynecol 1995; 86(5): 775- 779.
8. Mosher R, Goldstein DP, Berkowitz R, Bernstein M, Genest DR. Complete hydatidiform mole. Comparison of clinicopathologic features, current and past. J Reprod Med 1998; 43(1): 21-27.
9. Keep D, Zaragoza MV, Hassold T, Redline RW. Very early complete hydatidiform mole. Hum Pathol 1996; 27(7): 708-713.
10. Ronnett BM. Hydatidiform Moles: Ancillary Techniques to Refine Diagnosis. Arch Pathol Lab Med 2018; 142(12): 1485-1502.
11. Hodges MD, Rees HC, Seckl MJ, Newlands ES, Fisher RA. Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. J Med Genet 2003; 40(8): e95.
12. Deveault C, Qian JH, Chebaro W, et al. NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. Hum Mol Genet 2009; 18(5): 888-897.
13. Fallahian M, Sebire NJ, Savage PM, Seckl MJ, Fisher RA. Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. Hum Mutat 2013; 34(2): 301-308.
14. Lewis GH, DeScipio C, Murphy KM, et al. Characterization of androgenetic/biparental mosaic/chimeric conceptions, including those with a molar component: morphology, p57 immnohistochemistry, molecular genotyping, and risk of persistent gestational trophoblastic disease. Int J Gynecol Pathol 2013; 32(2): 199-214.
15. Buza N. Gestational Trophoblastic Disease: Contemporary Diagnostic Approach. Surgi Pathol Clin 2022; 15(2): 197-218.
16. Castrillon DH, Sun D, Weremowicz S, Fisher RA, Crum CP, Genest DR. Discrimination of complete hydatidiform mole from its mimics by immunohistochemistry of the paternally imprinted gene product p57KIP2. Am J Surg Pathol 2001; 25(10): 1225-1230.
17. Fisher RA, Nucci MR, Thaker HM, Weremowicz S, Genest DR, Castrillon DH. Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case. Mod Pathol 2004; 17(9): 1155- 1160.
18. McConnell TG, Norris-Kirby A, Hagenkord JM, Ronnett BM, Murphy KM. Complete hydatidiform mole with retained maternal chromosomes 6 and 11. Am J Surg Pathol 2009; 33(9): 1409-1415.
19. Makary R, Mohammadi A, Rosa M, Shuja S. Twin gestation with complete hydatidiform mole and a coexisting live fetus: case report and brief review of literature. Obstet Med 2010; 3(1): 30-32.
20. Genest DR. Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. Int J Gynecol Pathol 2001; 20(4): 315-322.
21. Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 1982; 46(3): 223-231.
22. Redline RW, Hassold T, Zaragoza MV. Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin. Hum Pathol 1998; 29(5): 505-511.
23. Rosenbusch B. Digynic triploidy: possible mechanisms. Prenat Diagn 2001; 21(3): 234.
24. Massalska D, Bijok J, Kucinska-Chahwan A, et al. Triploid pregnancy-Clinical implications. Clin Genet 2021; 100(4): 368-375.
25. Murphy KM, Descipio C, Wagenfuehr J, et al. Tetraploid partial hydatidiform mole: a case report and review of the literature. Int J Gynecol Pathol 2012; 31(1): 73-79.
26. Toufaily MH, Roberts DJ, Westgate MN, Holmes LB. Triploidy: Variation of Phenotype. Am J Clin Pathol 2016; 145(1): 86-95.
27. Klausen S, Larsen LG. Partial moles with maze-like vascular anomaly. APMIS 1994; 102(8): 638-640.
28. Banet N, DeScipio C, Murphy KM, et al. Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping. Mod Pathol 2014; 27(2): 238-254.
29. DeScipio C, Haley L, Beierl K, Pandit AP, Murphy KM, Ronnett BM. Diandric triploid hydatidiform mole with loss of maternal chromosome 11. Am J Surg Pathol 2011; 35(10): 1586-1591.
30. Feltmate CM, Growdon WB, Wolfberg AJ, et al. Clinical characteristics of persistent gestational trophoblastic neoplasia after partial hydatidiform molar pregnancy. J Reprod Med 2006; 51(11): 902-906.
31. Niemann I, Hansen ES, Sunde L. The risk of persistent trophoblastic disease after hydatidiform mole classified by morphology and ploidy. Gynecol Oncol 2007; 104(2): 411-415.
32. Schorge JO, Goldstein DP, Bernstein MR, Berkowitz RS. Gestational trophoblastic disease. Curr Treat Options Oncol 2000; 1(2): 169- 175.
33. Franke HR, Vermorken JB, von Kessel H, Dijkhuizen GH, Calame JJ, Stolk JG. Invasive mole. Eur J Obstet Gynecol Reprod Biol 1986; 21(3): 181-185.
34. Buza N, Hui P. Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine. Mod Pathol 2021; 34(9): 1658-1672.
Štítky
Patológia Súdne lekárstvo ToxikológiaČlánok vyšiel v časopise
Česko-slovenská patologie
2023 Číslo 2
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