Partial hydatidiform moles with unclear histopathological profile – importance of genetic diagnostics

Česká verzia

Authors: Gergely L. ¹; Petrovič R. ¹; Feketová Z. ¹; Klimová D. ¹; Danihel Ľ. ²; Mosná K. ²; Mrázová H. ²; Korbeľ M. ³; Repiská V. ¹; Priščáková P. ¹
Authors place of work: Ústav lekárskej bio lógie, genetiky a klinickej genetiky, LF UK a UN Bratislava, Slovenská republika ¹; Ústav patologickej anatómie, LF UK a UN Bratislava, Slovenská republika ²; I. gynekologicko-pôrodnícka klinika LF UK a UN Bratislava, Slovenská republika ³
Published in the journal: Ceska Gynekol 2021; 86(6): 381-386
Category: Original Article
doi: https://doi.org/10.48095/cccg2021381

Summary

Objective: The aim of the study was the genetic characterization of a set of cases with an unclear morphological profile of the placental tissue suspected of a partial hydatidiform mole. Patients and methods: This work presents the results of a genetic analysis of a group of 10 patients with various clinical manifestations of reproductive loss, where a partial hydatidiform mole was suspected on the basis of a histopathological examination. The composition of the genome of the products of conception was determined by short tandem repeats (STR) genotyping using a commercial kit “Devyser Compact v3 (Devyser) “. Results and conclusions: Out of 10 analyzed cases, five had diandric monogynic triploid genome, characteristic for a partial mole. Aneuploidies of chromosomes 13, 18, 21, X and Y were excluded in four cases and Patau‘s syndrome was diagnosed in one case. In the case of an unclear histopathological profile, consultative DNA analysis (ideally STR genotyping) can significantly help the pathologist in the differential diagnosis of a partial mole. The histopathological profile of a partial hydatidiform mole may be in some cases incomplete and unclear, especially in the early weeks of gestation, which can lead to false negativity of the examination. On the other hand, other pathologies, for example aneuploides or digynic triploidy, may produce a histopathological profile similar to a partial mole, which leads to false positivity. Accurate diagnosis of a partial hydatidiform mole using molecular genetic methods contributes to the determination of adequate dispensary care for patients.

Keywords:

Alleles – hydatidiform mole – microsatellite repeats – genotyping techniques

Zdroje

1. WHO. Classification of tumours editorial board. Female genital tumours. Vol. 4, 5th ed. Lyon: IARC 2020.

2. Čierna Z, Palkovič M, Danihel Ľ ml et al. Expresia markeru p57 v diferenciálnej diagnostike kompletnej a parciálnej moly – korelácia s DNA analýzou. Česk-slov Patol 2012; 48 (4): 218–221.

3. Kajii T, Ohama K. Androgenetic origin of hydatidiform mole. Nature 1977; 268 (5621): 633–634. doi: 10.1038/268633a0.

4. 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. doi: 10.1038/modpathol. 2013.143.

5. Shih IM, Ronnett BM, Mazur M et al. Gestational trophoblastic tumors and related tumorlike lesions. In: Kurman RJ, Ellenson LH, Ronnett BM (eds). Blaustein‘s pathology of the female genital tract. 6th ed. New York: Springer 2011.

6. Ronnett BM. Hydatidiform moles: ancillary techniques to refine diagnosis. Arch Pathol Lab Med 2018; 142 (12): 1485–1502. doi: 10.5858/ arpa.2018-0226-RA.

7. Pastoráková A, Petrovič R. Molekulárne metódy aktuálne používané v klinickej genetike. Bratislava: Lekárska fakulta, UK v Bratislave 2016: 27.

8. Zheng X, Hui P, Chang B et al. STR DNA genotyping of hydatidiform moles in South China. Int J Clin Exp Pathol 2014; 7 (8): 4704–4719.

9. Ngan HY, Seckl MJ, Berkowitz RS et al. Update on the diagnosis and management of gestational trophoblastic disease. Int J Gynecol Obstet 2018; 143 (Suppl 2): 79–85. doi: 10.1002/ijgo.12615.

10. Korbeľ M, Šufliarsky J, Danihel Ľ et al. Výsledky liečby gestačnej trofoblastovej neoplázie v Slovenskej republike v rokoch 1993 až 2012. Ceska Gynekol 2016; 81 (1): 6–13.

11. Seckl MJ, Fisher RA, Salerno G et al. Choriocarcinoma and partial hydatidiform moles. Lancet 2000; 356 (9223): 36–39. doi: 10.1016/S0140-6736 (00) 02432-6.

12. Ross JA, Unipan A, Clarke J et al. Ultrasound diagnosis of molar pregnancy. Ultrasound 2018; 26 (3): 153–159. doi: 10.1177/1742271X17748 514.

13. Zheng XZ, Qin XY, Wang P et al. Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation. Zhonghua Bing Li Xue Za Zhi 2018; 47 (8): 609–615. doi: 10.3760/cma.j.issn.0529-5807. 2018.08.008.

14. Korbeľ M, Černá M, Krausová M et al. Mola hydatidosa – zmeny v ultrazvukovej diagnostike za posledných 15 rokov. Slov Gynek Pôrod 2003; 10 (2): 66–69.

15. Kipp BR, Ketterling RP, Oberg TN et al. Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry, and digital image analysis for diagnosing molar and nonmolar products of conception. Am J Clin Pathol 2010; 133 (2): 196–204. doi: 10.1309/AJCPV7BRDUCX0WAQ.

16. Lai CY, Chan KY, Khoo US et al. Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization. Mod Pathol 2004; 17 (1): 40–48. doi: 10.1038/modpathol.3800010.

17. Zaragoza MV, Surti U, Redline RW et al. Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet 2000; 66 (6): 1807–1820. doi: 10.1086/302951.

18. Massalska D, Bijok J, Kucińska-Chahwan A et al. Triploid pregnancy-clinical implications. Clin Genet 2021; 100 (4): 368–375. doi: 10.1111/cge.14003.

19. Repiská V, Vojtassák J, Korbeľ M et al. DNA analýza gestačnej trofoblastovej choroby. Ceska Gynekol 2003; 68 (6): 442–448.

20. Ou CY, Chen MH, Niu MG. The polymorphism of nine STR loci on the genetic original identification of complete hydatidiform mole. Yi Chuan 2004; 26 (5): 607–611.

21. Fisher RA, Maher GJ. Genetics of gestational trophoblastic disease. Best Pract Res Clin Obstet Gynaecol 2021; 74: 29–41. doi: 10.1016/j.bpobgyn.2021.01.004.

22. Colgan TJ, Chang MC, Nanji S et al. DNA genotyping of suspected partial hydatidiform moles detects clinically significant aneuploidy. Int J Gynecol Pathol 2017; 36 (3): 217–221. doi: 10.1097/PGP.0000000000000322.

23. Noriega MA, Siddik AB. Trisomy 13. In: StatPearls. Treasure Island: StatPearls Publishing 2020.