Trizómia chromozómu 16 mimikujúca hydatidóznu molu

Download PDF English version

Authors: Lajos Gergely ^1,2; Miroslav Korbeľ ^2,3; Ľudovít Danihel ^2,4; Vanda Repiská ^1,2; Miroslav Tomka ¹; Liam McCullough ^2,3; Petra Priščáková ^1,2
Authors‘ workplace: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ¹; Centre for Gestational Trophoblastic Dis ease of Slovak Republic, Bratislava, Slovak Republic ²; 1st Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ³; Institute of Pathological Anatomy, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic ⁴
Published in: Ceska Gynekol 2024; 89(5): 396-399
Category: Case Report
doi: https://doi.org/10.48095/cccg2024396

Overview

Autori prezentujú prípad I. trimestrového potratu s klinicky suponovanou skorou formou kompletnej moly hydatidózy. Histopatologická a imunohistochemická analýza vylúčila kompletnú molu, ale histomorfologický profil naznačoval parciálnu hydatidóznu molu. Genetická analýza vylúčila parciálnu molu na základe biparentálnej kompozície genómu, ďalšie genetické analýzy odhalili trizómiu chromozómu 16. Trizómia chromozómu 16 je častou príčinou potratov v I. trimestri a môže viesť k vysoko abnormálnej histomorfológii placenty napodobňujúcej parciálnu molu. Genetické analýzy sú v týchto prípadoch rozhodujúce pre správnu diferenciálnu dia gnostiku, a teda pre stanovenie adekvátnej dispenzárnej starostlivosti a prognózy pre ďalšie gravidity.

Klíčová slova:

analýza DNA – trizómia 16 – aneuploidia – histomorfológia placenty

Sources

1. Essers R, Lebedev IN, Kurg A et al. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. Nat Med 2023; 29 (12): 3233–3242. doi: 10.1038/s41591-023-02645-5.

2. Wang Y, Zhou R, Jiang L et al. Identification of chromosomal abnormalities in early pregnancy loss using a high-throughput ligation-dependent probe amplification-based assay. J Mol Dia gn 2021; 23 (1): 38–45. doi: 10.1016/j.jmoldx. 2020.10.002.

3. Jauniaux E, Memtsa M, Johns J et al. Ultrasound dia gnosis of complete and partial hydatidiform moles in early pregnancy failure: an inter-observer study. Placenta 2020; 97: 65–67. doi: 10.1016/j.placenta.2020.06.013.

4. Wilson Y, Bharat C, Crook ML et al. Histological comparison of partial hydatidiform mole and trisomy gestation specimens. Pathology 2016; 48 (6): 550–554. doi: 10.1016/j.pathol.2016. 06.006.

5. Novais Nogueira Cardoso RM, Nogueira Cardoso PL, Azevedo AP et al. First-trimester miscarriage: a histopathological classification proposal. Heliyon 2021; 7 (3): e06359. doi: 10.1016/j.heliyon.2021.e06359.

6. Gergely L, Petrovič R, Feketová Z et al. Partial hydatidiform moles with unclear histopathological profile – importance of genetic dia g nostics. Ceska Gynekol 2021; 86 (6): 381–386. doi: 10.48095/cccg2021381.

7. Gergely L, Korbeľ M, Repiská V et al. DNA analysis of partial hydatidiform mole revealing triandric monogynic tetraploidy. Ceska Gynekol 2023; 8 (6): 446–449. doi: 10.48095/cccg2023446.

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

9. Bynum J, Batista D, Xian R et al. Tetraploid partial hydatidiform moles: molecular genotyping and determination of parental contributions. J Mol Dia gn 2020; 22 (1): 90–100. doi: 10.1016/j.jmoldx.2019.09.006.

10. Xing D, Adams E, Huang J et al. Refined dia g – nosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases. Mod Pathol 2021; 34 (5): 961–982. doi: 10.1038/s41379-020-00691-9.

11. Najafi K, Gholami S, Moshtagh A et al. Chromosomal aberrations in pregnancy and fetal loss: insight on the effect of consanguinity, review of 1,625 cases. Mol Genet Genomic Med 2019; 7 (8): e820. doi: 10.1002/mgg3.820.

12. Kutteh WH, Stephenson MD. Recurrent pregnancy loss. In: Bieber EJ, Sanfilippo JS, Horowitz IR (eds). Clinical gynecology. London: Churchill Livingstone 2006: 797–802.

13. Wang JCC. Autosomal aneuploidy. In: Gersen SL, Keagle MB (eds). The principles of clinical cytogenetics. 2nd ed. Totowa, New Jersey: Humana Press Inc. 2005: 133–164.

14. Ensembl. Human – GRCh38.p14. Chromosome 16. [online]. Available from: https: //www.ensembl.org/Homo_sapiens/Location/Chromosome?r=16: 14979006-15079006.

15. Ensembl. Human – GRCh38.p14. Chromosome 21. [online]. Available from: https: //www. ensembl.org/Homo_sapiens/Location/Chromo some?r=21%3A1-1000.

16. Spinillo SL, Farina A, Sotiriadis A et al. Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies. Am J Obstet Gynecol 2022; 227 (5): 714.e1–727.e1. Doi: 10.1016/j.ajog.2022.07.034.

17. Lannoo L, van Straaten K, Breckpot J et al. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge. Eur J Hum Genet 2022; 30 (12): 1323–1330. doi: 10.1038/s41431-022-01147-1.

ORCID authors

L. Gergely 0000-0003-3407-7914

M. Korbeľ 0000-0002-5773-2371

V. Repiská 0000-0003-1907-8468

M. Tomka 0000-0002-5731-9720

L. McCullough 0009-0002-9237-7472

P. Priščáková 0000-0001-7287-3837

Submitted/Doručené: 8. 4. 2024

Accepted/Prijaté: 30. 4. 2024

Lajos Gergely, MD

Institute of Medical Biology

Genetics and Clinical Genetics