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EOTTD 关于葡萄胎病理和遗传学诊断的实用指南。

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

机构信息

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.

Department of Pathology, Clínic Barcelona, Department of Basic Clinical Practice, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.

出版信息

Virchows Arch. 2024 Mar;484(3):401-422. doi: 10.1007/s00428-023-03658-8. Epub 2023 Oct 19.

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

摘要

葡萄胎较为罕见,因此大多数病理学家和遗传学家在诊断方面经验有限。鉴于葡萄胎是一种与持续性妊娠滋养细胞疾病和妊娠滋养细胞肿瘤风险相关的癌前病变,及时正确地识别葡萄胎至关重要。通过统一诊断标准和建立算法,可以提高诊断水平。为此,欧洲滋养细胞疾病治疗组织的病理学和遗传学工作组制定了指南,描述了在葡萄胎的鉴别诊断中可以使用的病理标准和辅助技术。这些指南基于文献中的最佳现有证据、专业经验以及参与指南制定的专家组的共识。

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本文引用的文献

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Auxiliary and experimental diagnostic techniques for hydatidiform moles.葡萄胎的辅助和实验诊断技术。
J Obstet Gynaecol Res. 2022 Dec;48(12):3077-3086. doi: 10.1111/jog.15422. Epub 2022 Sep 13.
2
Twin/Multiple Gestations With a Hydatidiform Mole: Clinicopathologic Analysis of 21 Cases With Emphasis on Molecular Genotyping and Parental Contribution.多胎妊娠合并葡萄胎:21 例临床病理分析,重点是分子基因分型和亲代贡献。
Am J Surg Pathol. 2022 Sep 1;46(9):1180-1195. doi: 10.1097/PAS.0000000000001893. Epub 2022 Jul 6.
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Importance of pathological review of gestational trophoblastic diseases: results of the Belgian Gestational Trophoblastic Diseases Registry.
Reappraisal and refined diagnosis of ultrasonography and histological findings for hydatidiform moles: a multicentre retrospective study of 821 patients.
葡萄胎超声检查和组织学检查结果的重新评估及精准诊断:一项对821例患者的多中心回顾性研究
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Morphology combined with D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping.形态学联合D-DISH倍体分析诊断部分性葡萄胎:一项使用分子基因分型的评估审计
J Clin Pathol. 2025 Apr 17;78(5):327-334. doi: 10.1136/jcp-2023-209269.
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Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption of D-DISH for ploidy analysis.新型评分系统在二倍体和三倍体之间具有高度区分度,有助于部分性葡萄胎的诊断:一种用于倍性分析的改良D-DISH法
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Expert Pathology for Gestational Trophoblastic Disease: Towards an International Multidisciplinary Team Meeting.《妊娠滋养细胞疾病的专家病理学:迈向国际化多学科团队会议》。
Gynecol Obstet Invest. 2024;89(3):166-177. doi: 10.1159/000536028. Epub 2024 Jan 8.
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