Hướng dẫn thực hành của EOTTD về chẩn đoán bệnh lý và di truyền của nang hydatid

Carla Bartosch1, Alfons Nadal2, Ana C. Braga3, Angela Salerno4, Anne-Laure Rougemont5, Anne-Sophie Van Rompuy6, Brendan Fitzgerald7, Caroline Joyce8, Fabienne Allias9, Geoffrey J. Maher10, Gitta Turowski11, Jean-Christophe Tille5, Kinan Drak Alsibai12, Koen Van de Vijver13, Lesley McMahon14, Lone Sunde15, Michal Pyzlak16, Paul Downey17, Sandra Wessman18, Sophie Patrier19, Baljeet Kaur20, Rosemary Fisher21
1Department of Pathology, Cancer Biology & Epigenetics Group, Research Center of IPO Porto (CI-IPOP) / RISE@CI-IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC) and Centro Hospitalar Universitário S. João, Porto, Portugal
2Department of Pathology, Clínic Barcelona, Department of Basic Clinical Practice, Universitat de Barcelona, Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
3Department of Pathology, University Hospital Centre of São João (CHUSJ) / Faculty of Medicine - University of Porto (FMUP) / School of Health (ESS) - Polytechnic Institute of Porto (P. PORTO), Alameda Prof. Hernâni Monteiro, Porto, Portugal
4Anatomia Patologica, Ospedale Maggiore AUSL Bologna, Bologna, Italy
5Division of Clinical Pathology, Geneva University Hospital, Geneva, Switzerland
6Department of Pathology, University Hospitals Leuven, Louvain, Belgium
7Department of Pathology, Cork University Hospital, Cork, Ireland
8Department of Clinical Biochemistry, Cork University Hospital, Ireland/ Pregnancy Loss Research Group, Department of Obstetrics & Gynaecology, University College Cork, Cork, Ireland
9Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre Bénite, France
10Trophoblastic Tumour Screening & Treatment Centre, Imperial College NHS Trust, Charing Cross Hospital, London, UK
11Department of Pathology, Oslo University Hospital, INNPATH Tirolkliniken, Innsbruck, Austria
12Department of Pathology and Center of Biological Resources (CRB Amazonie), Cayenne Hospital Center Andrée Rosemon, Cayenne, France
13Department of Pathology, Ghent University Hospital, Ghent, Belgium
14Scottish Hydatidiform Mole Follow-Up Service, Ninewells Hospital and Medical School, Dundee, Scotland
15Department of Clinical Genetics, Aalborg University Hospital, Denmark/Department of Biomedicine, Aarhus University, Aarhus, Denmark
16Department of Pathology, Institute of Mother and Child, Warsaw, Poland
17Department of Pathology, National Maternity Hospital, Dublin, Ireland
18Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
19Department of Pathology, Rouen University Hospital, Rouen, France
20Department of Pathology, North West London Pathology, Imperial College NHS Trust, London, UK
21Department of Surgery and Cancer, Imperial College London, Charing Cross Hospital. Fulham Palace Road, London, UK

Tóm tắt

Nang hydatid là những trường hợp hiếm gặp và do đó, hầu hết các nhà bệnh lý học và di truyền học đều có ít kinh nghiệm trong việc chẩn đoán chúng. Việc xác định đúng và nhanh chóng các nang hydatid là rất quan trọng vì chúng là rối loạn tiền ung thư có liên quan đến nguy cơ mắc bệnh khối u sinh dục thai kỳ kéo dài và khối u sinh dục thai kỳ. Cải thiện chẩn đoán có thể đạt được thông qua việc đồng nhất hóa các tiêu chí chẩn đoán và thiết lập các thuật toán. Để đạt được mục tiêu này, Nhóm làm việc về Bệnh lý và Di truyền của Tổ chức Châu Âu về Điều trị các Bệnh Trophoblastic đã phát triển các hướng dẫn mô tả các tiêu chí bệnh lý và các kỹ thuật bổ sung có thể được sử dụng trong chẩn đoán phân biệt nang hydatid. Các hướng dẫn này dựa trên bằng chứng tốt nhất có sẵn trong tài liệu, kinh nghiệm chuyên môn và sự đồng thuận của nhóm chuyên gia tham gia vào việc phát triển chúng.

Từ khóa

#nang hydatid #chẩn đoán bệnh lý #chẩn đoán di truyền #bệnh trophoblastic #ung thư thai kỳ

Tài liệu tham khảo

Allias F, Lebreton F, Collardeau-Frachon S, Azziza J, Pasquier CJ, Arcin-Thoury F, Patrier S, Devouassoux-Shisheboran M (2009) Immunohistochemical expression of p57 in placental vascular proliferative disorders of preterm and term placentas Fetal. Pediatr Pathol 28:9–23. https://doi.org/10.1080/15513810802545350 Allias F, Mechtouf N, Gaillot-Durand L, Hoffner L, Hajri T, Devouassoux-Shisheboran M, Massardier J, Golfier F, Bolze PA, Surti U, Slim R (2020) A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles. Virchows Arch 477:309–315. https://doi.org/10.1007/s00428-020-02769-w Altieri A, Franceschi S, Ferlay J, Smith J, La Vecchia C (2003) Epidemiology and aetiology of gestational trophoblastic diseases. Lancet Oncol 4:670–678. https://doi.org/10.1016/s1470-2045(03)01245-2 Buza N, Hui P (2013) Partial hydatidiform mole: histologic parameters in correlation with DNA genotyping. Int J Gynecol Pathol 32:307–315. https://doi.org/10.1097/PGP.0b013e3182626011 Buza N, Hui P (2014) Egg donor pregnancy: a potential pitfall in DNA genotyping diagnosis of hydatidiform moles. Int J Gynecol Pathol 33:507–510. https://doi.org/10.1097/PGP.0b013e3182a1028b Buza N, Hui P (2021) Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine. Mod Pathol 34:1658–1672. https://doi.org/10.1038/s41379-021-00831-9 Carreon CK, Roberts DJ (2021) Discovery of inverted discordant p57 expression in random clusters of dysmorphic chorionic villi of third trimester placentas suggests a more common occurrence of such phenomenon than initially described. Placenta 104:295–302. https://doi.org/10.1016/j.placenta.2020.12.011 Castrillon DH, Sun D, Weremowicz S, Fisher RA, Crum CP, Genest DR (2001) Discrimination of complete hydatidiform mole from its mimics by immunohistochemistry of the paternally imprinted gene product p57KIP2. Am J Surg Pathol 25:1225–1230. https://doi.org/10.1097/00000478-200110000-00001 Cheung AN, Hui P, Shih I (2020) Gestational trophoblastic disease WHO classification of tumours, female genital tumours, 5th edn. IACR Press, pp 309–333 Chew SH, Perlman EJ, Williams R, Kurman RJ, Ronnett BM (2000) Morphology and DNA content analysis in the evaluation of first trimester placentas for partial hydatidiform mole (PHM). Hum Pathol 31:914–924. https://doi.org/10.1053/hupa.2000.9085 Choi-Hong SR, Genest DR, Crum CP, Berkowitz R, Goldstein DP, Schofield DE (1995) Twin pregnancies with complete hydatidiform mole and coexisting fetus: use of fluorescent in situ hybridization to evaluate placental X- and Y-chromosomal content. Hum Pathol 26:1175–1180. https://doi.org/10.1016/0046-8177(95)90189-2 Colgan TJ, Chang MC, Nanji S, Kolomietz E (2016) A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping. Int J Gynecol Cancer 26:1345–1350. https://doi.org/10.1097/IGC.0000000000000754 Colgan TJ, Chang MC, Nanji S, Kolomietz E (2017) DNA Genotyping of Suspected Partial Hydatidiform Moles Detects Clinically Significant Aneuploidy. Int J Gynecol Pathol 36:217–221. https://doi.org/10.1097/PGP.0000000000000322 Daumova M, Hadravska S, Peterikova AS, Hasch M, Martinek P (2021) Placental mesenchymal dysplasia - morphology and differential diagnosis. Cesk Patol 57:203–207 DeScipio C, Haley L, Beierl K, Pandit AP, Murphy KM, Ronnett BM (2011) Diandric triploid hydatidiform mole with loss of maternal chromosome 11. Am J Surg Pathol 35:1586–1591. https://doi.org/10.1097/PAS.0b013e31822d5cff Eagles N, Sebire NJ, Short D, Savage PM, Seckl MJ, Fisher RA (2015) Risk of recurrent molar pregnancies following complete and partial hydatidiform moles. Hum Reprod 30:2055–2063. https://doi.org/10.1093/humrep/dev169 Eysbouts YK, Bulten J, Ottevanger PB, Thomas CM, Ten Kate-Booij MJ, van Herwaarden AE, Siebers AG, Sweep FC, Massuger LF (2016) Trends in incidence for gestational trophoblastic disease over the last 20 years in a population-based study. Gynecol Oncol 140:70–75. https://doi.org/10.1016/j.ygyno.2015.11.014 Fallahian M, Sebire NJ, Savage PM, Seckl MJ, Fisher RA (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. Hum Mutat 34:301–308. https://doi.org/10.1002/humu.22228 Fisher RA, Maher GJ (2021) Genetics of gestational trophoblastic disease. Best Pract Res Clin Obstet Gynaecol 74:29–41. https://doi.org/10.1016/j.bpobgyn.2021.01.004 Fisher RA, Nucci MR, Thaker HM, Weremowicz S, Genest DR, Castrillon DH (2004) Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case. Mod Pathol 17:1155–1160. https://doi.org/10.1038/modpathol.3800175 Fisher RA, Tommasi A, Short D, Kaur B, Seckl MJ, Sebire NJ (2014) Clinical utility of selective molecular genotyping for diagnosis of partial hydatidiform mole; a retrospective study from a regional trophoblastic disease unit. J Clin Pathol 67:980–984. https://doi.org/10.1136/jclinpath-2014-202517 Folkins A, Cruz L, Goldstein DP, Berkowitz RS, Crum C, Kindelberger D (2010) Utility of chromosomal chromogenic in situ hybridization as an alternative to flow cytometry and cytogenetics in the diagnosis of early partial hydatidiform moles: a validation study. J Reprod Med 55:275–278 Fukunaga M, Katabuchi H, Nagasaka T, Mikami Y, Minamiguchi S, Lage JM (2005) Interobserver and intraobserver variability in the diagnosis of hydatidiform mole. Am J Surg Pathol 29:942–947. https://doi.org/10.1097/01.pas.0000157996.23059.c1 Gaillot-Durand L, Patrier S, Aziza J, Devisme L, Riera AC, Marcorelles P, Pelluard F, Gasser B, Mauduit C, Hajri T, Massardier J, Bolze PA, Golfier F, Devouassoux-Shisheboran M, Allias F (2020) p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 cases. Hum Pathol 101:18–30. https://doi.org/10.1016/j.humpath.2020.04.011 Galea LA, Newman M, Au RS, Leong TY, Williams DS (2014) Development of a silver in situ hybridisation based assay for the determination of ploidy status in molar pregnancy diagnosis. Pathology 46:15–20. https://doi.org/10.1097/PAT.0000000000000025 Genest DR (2001) Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. Int J Gynecol Pathol 20:315–322. https://doi.org/10.1097/00004347-200110000-00001 Giacometti C, Bellan E, Ambrosi A, Dei Tos AP, Cassaro M, Ludwig K (2021) “While there is p57, there is hope.” The past and the present of diagnosis in first trimester abortions: Diagnostic dilemmas and algorithmic approaches. A review Placenta 116:31–37. https://doi.org/10.1016/j.placenta.2021.02.010 Grinschgl I, Mannweiler S, Holzapfel-Bauer M, Pferschy U, Hoefler G, Guertl B (2013) The role of morphology in combination with ploidy analysis in characterizing early gestational abortion. Virchows Arch 462:175–182. https://doi.org/10.1007/s00428-012-1350-8 Gupta M, Vang R, Yemelyanova AV, Kurman RJ, Li FR, Maambo EC, Murphy KM, DeScipio C, Thompson CB, Ronnett BM (2012) Diagnostic reproducibility of hydatidiform moles: ancillary techniques (p57 immunohistochemistry and molecular genotyping) improve morphologic diagnosis for both recently trained and experienced gynecologic pathologists. Am J Surg Pathol 36:1747–1760. https://doi.org/10.1097/PAS.0b013e31825ea736 He M, Pasquariello T, Steinhoff M (2016) Application of HER2 CISH pharmDX for DNA Ploidy Determination Appl Immunohistochem. Mol Morphol 24:465–469. https://doi.org/10.1097/PAI.0000000000000220 Hodgson A, Dube V, Strickland S, Kolomietz E, Noor A, Akbari A, Colgan T, Turashvili G (2021) Androgenetic/Biparental Mosaic/Chimeric Conceptions With a Molar Component: A Diagnostic and Clinical Challenge. Int J Gynecol Pathol 40:510–517. https://doi.org/10.1097/PGP.0000000000000719 Hoffner L, Dunn J, Esposito N, Macpherson T, Surti U (2008) P57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions. Hum Pathol 39:63–72. https://doi.org/10.1016/j.humpath.2007.05.010 Howat AJ, Beck S, Fox H, Harris SC, Hill AS, Nicholson CM, Williams RA (1993) Can histopathologists reliably diagnose molar pregnancy? J Clin Pathol 46:599–602. https://doi.org/10.1136/jcp.46.7.599 Joneborg U, Folkvaljon Y, Papadogiannakis N, Lambe M, Marions L (2018) Temporal trends in incidence and outcome of hydatidiform mole: a retrospective cohort study. Acta Oncol 57:1094–1099. https://doi.org/10.1080/0284186X.2018.1438653 Joyce C, Maher G, Dineen S, O'Donoghue K, Coulter J, Fitzgerald B (2023) Accuracy of Partial Hydatidiform Mole diagnosis using morphology and ploidy determination with HER2 D-DISH compared to molecular genotyping. Abstracts of the 2022 BMFMS meeting BJOG 130:43. https://doi.org/10.1111/1471-0528.17419 Kaur B (2021) Pathology of gestational trophoblastic disease (GTD) Best Pract. Res Clin Obstet Gynaecol 74:3–28. https://doi.org/10.1016/j.bpobgyn.2021.02.005 Keep D, Zaragoza MV, Hassold T, Redline RW (1996) Very early complete hydatidiform mole Hum Pathol 27:708–713. https://doi.org/10.1016/s0046-8177(96)90402-5 Kim MJ, Kim KR, Ro JY, Lage JM, Lee HI (2006) Diagnostic and pathogenetic significance of increased stromal apoptosis and incomplete vasculogenesis in complete hydatidiform moles in very early pregnancy periods. Am J Surg Pathol 30:362–369. https://doi.org/10.1097/01.pas.0000194299.27463.21 Kim KR, Park BH, Hong YO, Kwon HC, Robboy SJ (2009) The villous stromal constituents of complete hydatidiform mole differ histologically in very early pregnancy from the normally developing placenta. Am J Surg Pathol 33:176–185. https://doi.org/10.1097/PAS.0b013e31817fada1 Kunesh JP, Kunesh JG, Jorgensen RJ, Corral CD, Blakey JD (2016) Utilization of Chromogenic In Situ Hybridization to Assess Ploidy in the Diagnosis of Hydatidiform Mole. Am J Clin Pathol 146:125–131. https://doi.org/10.1093/ajcp/aqw095 Lage JM, Mark SD, Roberts DJ, Goldstein DP, Bernstein MR, Berkowitz RS (1992) A flow cytometric study of 137 fresh hydropic placentas: correlation between types of hydatidiform moles and nuclear DNA ploidy. Obstet Gynecol 79:403–410. https://doi.org/10.1097/00006250-199203000-00016 LeGallo RD, Stelow EB, Ramirez NC, Atkins KA (2008) Diagnosis of hydatidiform moles using p57 immunohistochemistry and HER2 fluorescent in situ hybridization. Am J Clin Pathol 129:749–755. https://doi.org/10.1309/7XRL378C22W7APBT Lescoat D, Jouan H, Loeuillet-Olivo L, Le Calve M (2005) Fluorescent in situ hybridization (FISH) on paraffin-embedded placental tissues as an adjunct for understanding the etiology of early spontaneous abortion. Prenat Diagn 25:314–317. https://doi.org/10.1002/pd.1132 Lewis GH, DeScipio C, Murphy KM, Haley L, Beierl K, Mosier S, Tandy S, Cohen DS, Lytwyn A, Elit L, Vang R, Ronnett BM (2013) 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 32:199–214. https://doi.org/10.1097/PGP.0b013e3182630d8c Lok C, van Trommel N, Massuger L, Golfier F, Seckl M (2020) Clinical Working Party of the E. Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease Eur J Cancer 130:228–240. https://doi.org/10.1016/j.ejca.2020.02.011 Lund H, Nielsen S, Grove A, Vyberg M, Sunde L (2020) p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types Appl Immunohistochem. Mol Morphol 28:694–701. https://doi.org/10.1097/PAI.0000000000000807 McConnell TG, Murphy KM, Hafez M, Vang R, Ronnett BM (2009) Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. Am J Surg Pathol 33:805–817. https://doi.org/10.1097/PAS.0b013e318191f309 McConnell TG, Norris-Kirby A, Hagenkord JM, Ronnett BM, Murphy KM (2009) Complete hydatidiform mole with retained maternal chromosomes 6 and 11. Am J Surg Pathol 33:1409–1415. https://doi.org/10.1097/PAS.0b013e3181a90e01 Montes M, Roberts D, Berkowitz RS, Genest DR (1996) Prevalence and significance of implantation site trophoblastic atypia in hydatidiform moles and spontaneous abortions. Am J Clin Pathol 105:411–416. https://doi.org/10.1093/ajcp/105.4.411 Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 38:300–302. https://doi.org/10.1038/ng1740 Murphy KM, Carrick K, Gwin K, Rogers V, Koduru P, Ronnett BM, Castrillon DH (2022) Rare Complete Hydatidiform Mole With p57 Expression in Villous Mesenchyme: Case Report and Review of Discordant p57 Expression in Hydatidiform Moles. Int J Gynecol Pathol 41:45–50. https://doi.org/10.1097/PGP.0000000000000773 Murphy KM, Descipio C, Wagenfuehr J, Tandy S, Mabray J, Beierl K, Micetich K, Libby AL, Ronnett BM (2012) Tetraploid partial hydatidiform mole: a case report and review of the literature. Int J Gynecol Pathol 31:73–79. https://doi.org/10.1097/PGP.0b013e31822555b3 Ngan HYS, Seckl MJ, Berkowitz RS, Xiang Y, Golfier F, Sekharan PK, Lurain JR, Massuger L (2021) Diagnosis and management of gestational trophoblastic disease: 2021 update. Int J Gynaecol Obstet 155(1):86–93. https://doi.org/10.1002/ijgo.13877 Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R (2018) Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet 103:740–751. https://doi.org/10.1016/j.ajhg.2018.10.007 Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R (2018) The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Mod Pathol 31:1116–1130. https://doi.org/10.1038/s41379-018-0031-9 Niemann I, Petersen LK, Hansen ES, Sunde L (2006) Predictors of low risk of persistent trophoblastic disease in molar pregnancies. Obstet Gynecol 107:1006–1011. https://doi.org/10.1097/01.AOG.0000210635.24543.3b Palmer JR (1994) Advances in the epidemiology of gestational trophoblastic disease. J Reprod Med 39:155–162 Paradinas FJ, Browne P, Fisher RA, Foskett M, Bagshawe KD, Newlands E (1996) A clinical, histopathological and flow cytometric study of 149 complete moles, 146 partial moles and 107 non-molar hydropic abortions. Histopathology 28:101–110. https://doi.org/10.1046/j.1365-2559.1996.247295.x Paradinas FJ, Fisher RA, Browne P, Newlands ES (1997) Diploid hydatidiform moles with fetal red blood cells in molar villi. 1–Pathology, incidence, and prognosis. J Pathol 181:183–188. https://doi.org/10.1002/(SICI)1096-9896(199702)181:2%3c183::AID-PATH761%3e3.0.CO;2-5 Paradinas FJ, Sebire NJ, Fisher RA, Rees HC, Foskett M, Seckl MJ, Newlands ES (2001) Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles. Histopathology 39:447–454. https://doi.org/10.1046/j.1365-2559.2001.01256.x Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG (2011) Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet 89:451–458. https://doi.org/10.1016/j.ajhg.2011.08.002 Philipp T, Grillenberger K, Separovic ER, Philipp K, Kalousek DK (2004) Effects of triploidy on early human development. Prenat Diagn 24:276–281. https://doi.org/10.1002/pd.789 Ronnett BM (2018) Hydatidiform Moles: Ancillary Techniques to Refine Diagnosis. Arch Pathol Lab Med 142:1485–1502. https://doi.org/10.5858/arpa.2018-0226-RA Savage PM, Sita-Lumsden A, Dickson S, Iyer R, Everard J, Coleman R, Fisher RA, Short D, Casalboni S, Catalano K, Seckl MJ (2013) The relationship of maternal age to molar pregnancy incidence, risks for chemotherapy and subsequent pregnancy outcome. J Obstet Gynaecol 33:406–411. https://doi.org/10.3109/01443615.2013.771159 Schoenen S, Delbecque K, Van Rompuy AS, Marbaix E, Noel JC, Delvenne P, Moerman P, Vergote I, Kridelka F, Vandewal A, Han S, Goffin F (2022) Importance of pathological review of gestational trophoblastic diseases: results of the Belgian Gestational Trophoblastic Diseases Registry. Int J Gynecol Cancer. https://doi.org/10.1136/ijgc-2021-003312 Sebire NJ, Savage PM, Seckl MJ, Fisher RA (2013) Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. Placenta 34:50–56. https://doi.org/10.1016/j.placenta.2012.11.005 Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K, Hastings R (2019) European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet 27:1–16. https://doi.org/10.1038/s41431-018-0244-x Sun SY, Melamed A, Joseph NT, Gockley AA, Goldstein DP, Bernstein MR, Horowitz NS, Berkowitz RS (2016) Clinical Presentation of Complete Hydatidiform Mole and Partial Hydatidiform Mole at a Regional Trophoblastic Disease Center in the United States Over the Past 2 Decades. Int J Gynecol Cancer 26:367–370. https://doi.org/10.1097/IGC.0000000000000608 Sunde L, Niemann I, Hansen ES, Hindkjaer J, Degn B, Jensen UB, Bolund L (2011) Mosaics and moles Eur J Hum Genet 19:1026–1031. https://doi.org/10.1038/ejhg.2011.93 Sundvall L, Lund H, Niemann I, Jensen UB, Bolund L, Sunde L (2013) Tetraploidy in hydatidiform moles Hum Reprod 28:2010–2020. https://doi.org/10.1093/humrep/det132 Toufaily MH, Roberts DJ, Westgate MN, Holmes LB (2016) Triploidy: Variation of Phenotype. Am J Clin Pathol 145:86–95. https://doi.org/10.1093/ajcp/aqv012 Usui H (2022) Auxiliary and experimental diagnostic techniques for hydatidiform moles. J Obstet Gynaecol Res 48:3077–3086. https://doi.org/10.1111/jog.15422 Vang R, Gupta M, Wu LS, Yemelyanova AV, Kurman RJ, Murphy KM, Descipio C, Ronnett BM (2012) Diagnostic reproducibility of hydatidiform moles: ancillary techniques (p57 immunohistochemistry and molecular genotyping) improve morphologic diagnosis. Am J Surg Pathol 36:443–453. https://doi.org/10.1097/PAS.0b013e31823b13fe Wilson Y, Bharat C, Crook ML, Kee AR, Peverall J, Ruba S, Stewart CJ (2016) Histological comparison of partial hydatidiform mole and trisomy gestation specimens. Pathology 48:550–554. https://doi.org/10.1016/j.pathol.2016.06.006 Xing D, Adams E, Huang J, Ronnett BM (2021) Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases. Mod Pathol 34:961–982. https://doi.org/10.1038/s41379-020-00691-9 Xing D, Adams E, Zou YS, Morsberger L, Scanga LR, Gao FF, Barker N, Vang R, Ronnett BM (2022) Twin/Multiple Gestations With a Hydatidiform Mole: Clinicopathologic Analysis of 21 Cases With Emphasis on Molecular Genotyping and Parental Contribution. Am J Surg Pathol 46:1180–1195. https://doi.org/10.1097/PAS.0000000000001893 Yver M, Carles D, Bloch B, Bioulac-Sage P, Martin Negrier ML (2004) Determination of DNA ploidy by fluorescence in situ hybridization (FISH) in hydatidiform moles: evaluation of FISH on isolated nuclei. Hum Pathol 35:752–758. https://doi.org/10.1016/j.humpath.2004.01.020 Zaragoza MV, Keep D, Genest DR, Hassold T, Redline RW (1997) Early complete hydatidiform moles contain inner cell mass derivatives. Am J Med Genet 70:273–277. https://doi.org/10.1002/(sici)1096-8628(19970613)70:3%3c273::aid-ajmg11%3e3.0.co;2-i