Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

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 Kaur^#²⁰, Rosemary Fisher^#²¹

Affiliations

¹ Department 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, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal. carla.bartosch@ipoporto.min-saude.pt.
² Department of Pathology, Clínic Barcelona, Department of Basic Clinical Practice, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.
³ Department 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, 4200-319, Porto, Portugal.
⁴ Anatomia Patologica, Ospedale Maggiore AUSL Bologna, Bologna, Italy.
⁵ Division of Clinical Pathology, Geneva University Hospital, Geneva, Switzerland.
⁶ Department of Pathology, University Hospitals Leuven, Louvain, Belgium.
⁷ Department of Pathology, Cork University Hospital, Cork, Ireland.
⁸ Department of Clinical Biochemistry, Cork University Hospital, Ireland/ Pregnancy Loss Research Group, Department of Obstetrics & Gynaecology, University College Cork, Cork, Ireland.
⁹ Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre Bénite, France.
¹⁰ Trophoblastic Tumour Screening & Treatment Centre, Imperial College NHS Trust, Charing Cross Hospital, Fulham Palace Road, London, W6 8RF, UK.
¹¹ Department of Pathology, Oslo University Hospital, INNPATH Tirolkliniken, Innsbruck, Austria.
¹² Department of Pathology and Center of Biological Resources (CRB Amazonie), Cayenne Hospital Center Andrée Rosemon, 97306, Cayenne, France.
¹³ Department of Pathology, Ghent University Hospital, Ghent, Belgium.
¹⁴ Scottish Hydatidiform Mole Follow-Up Service, Ninewells Hospital and Medical School, Dundee, Scotland.
¹⁵ Department of Clinical Genetics, Aalborg University Hospital, Denmark/Department of Biomedicine, Aarhus University, Aalborg, Aarhus, Denmark.
¹⁶ Department of Pathology, Institute of Mother and Child, Warsaw, Poland.
¹⁷ Department of Pathology, National Maternity Hospital, Dublin, D02YH21, Ireland.
¹⁸ Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
¹⁹ Department of Pathology, Rouen University Hospital, Rouen, France.
²⁰ Department of Pathology, North West London Pathology, Imperial College NHS Trust, Fulham Palace Road, London, W6 8RF, UK.
²¹ Department of Surgery and Cancer, Imperial College London, Charing Cross Hospital. Fulham Palace Road, London, W6 8RF, UK.

^# Contributed equally.

PMID: 37857997
DOI: 10.1007/s00428-023-03658-8

Review

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Carla Bartosch et al. Virchows Arch. 2024 Mar.

. 2024 Mar;484(3):401-422.

doi: 10.1007/s00428-023-03658-8. Epub 2023 Oct 19.

Authors

Affiliations

¹ Department 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, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal. carla.bartosch@ipoporto.min-saude.pt.
² Department of Pathology, Clínic Barcelona, Department of Basic Clinical Practice, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.
³ Department 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, 4200-319, Porto, Portugal.
⁴ Anatomia Patologica, Ospedale Maggiore AUSL Bologna, Bologna, Italy.
⁵ Division of Clinical Pathology, Geneva University Hospital, Geneva, Switzerland.
⁶ Department of Pathology, University Hospitals Leuven, Louvain, Belgium.
⁷ Department of Pathology, Cork University Hospital, Cork, Ireland.
⁸ Department of Clinical Biochemistry, Cork University Hospital, Ireland/ Pregnancy Loss Research Group, Department of Obstetrics & Gynaecology, University College Cork, Cork, Ireland.
⁹ Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre Bénite, France.
¹⁰ Trophoblastic Tumour Screening & Treatment Centre, Imperial College NHS Trust, Charing Cross Hospital, Fulham Palace Road, London, W6 8RF, UK.
¹¹ Department of Pathology, Oslo University Hospital, INNPATH Tirolkliniken, Innsbruck, Austria.
¹² Department of Pathology and Center of Biological Resources (CRB Amazonie), Cayenne Hospital Center Andrée Rosemon, 97306, Cayenne, France.
¹³ Department of Pathology, Ghent University Hospital, Ghent, Belgium.
¹⁴ Scottish Hydatidiform Mole Follow-Up Service, Ninewells Hospital and Medical School, Dundee, Scotland.
¹⁵ Department of Clinical Genetics, Aalborg University Hospital, Denmark/Department of Biomedicine, Aarhus University, Aalborg, Aarhus, Denmark.
¹⁶ Department of Pathology, Institute of Mother and Child, Warsaw, Poland.
¹⁷ Department of Pathology, National Maternity Hospital, Dublin, D02YH21, Ireland.
¹⁸ Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
¹⁹ Department of Pathology, Rouen University Hospital, Rouen, France.
²⁰ Department of Pathology, North West London Pathology, Imperial College NHS Trust, Fulham Palace Road, London, W6 8RF, UK.
²¹ Department of Surgery and Cancer, Imperial College London, Charing Cross Hospital. Fulham Palace Road, London, W6 8RF, UK.

^# Contributed equally.

PMID: 37857997
DOI: 10.1007/s00428-023-03658-8

Erratum in

Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.
Bartosch C, Nadal A, Braga AC, Salerno A, Rougemont AL, Van Rompuy AS, Fitzgerald B, Joyce C, Allias F, Maher GJ, Turowski G, Tille JC, Alsibai KD, Van de Vijver K, McMahon L, Sunde L, Pyzlak M, Downey P, Wessman S, Patrier S, Kaur B, Fisher R. Bartosch C, et al. Virchows Arch. 2024 Mar;484(3):539-548. doi: 10.1007/s00428-023-03715-2. Virchows Arch. 2024. PMID: 38421406 No abstract available.

Abstract

Hydatidiform moles are rare and thus most pathologists and geneticists have little experience with their diagnosis. It is important to promptly and correctly identify hydatidiform moles given that they are premalignant disorders associated with a risk of persistent gestational trophoblastic disease and gestational trophoblastic neoplasia. Improvement in diagnosis can be achieved with uniformization of diagnostic criteria and establishment of algorithms. To this aim, the Pathology and Genetics Working Party of the European Organisation for Treatment of Trophoblastic Diseases has developed guidelines that describe the pathological criteria and ancillary techniques that can be used in the differential diagnosis of hydatidiform moles. These guidelines are based on the best available evidence in the literature, professional experience and consensus of the experts' group involved in its development.

Keywords: Diagnosis; Genetics; Genotyping; Guidelines; Hydatidiform moles; Pathology.

PubMed Disclaimer

References

1. 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 - DOI
1. 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 - DOI - PubMed
1. 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 - DOI - PubMed
1. 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 - DOI - PubMed
1. 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 - DOI - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Springer
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Affiliations

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Authors

Affiliations

Erratum in

Abstract

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical