When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.

IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Gynecologic and Obstetric Investigation Pub Date : 2024-01-01 Epub Date: 2023-05-26 DOI:10.1159/000531218
Lesley McMahon, Geoffrey J Maher, Caroline Joyce, Isa Niemann, Rosemary Fisher, Lone Sunde
{"title":"When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.","authors":"Lesley McMahon, Geoffrey J Maher, Caroline Joyce, Isa Niemann, Rosemary Fisher, Lone Sunde","doi":"10.1159/000531218","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products of conception, such features are not always present, especially at early stages of pregnancy. Furthermore, mosaic/chimeric pregnancies and twin pregnancies make pathological diagnosis challenging while trophoblastic tumours can also pose diagnostic problems in terms of their gestational or non-gestational origin.</p><p><strong>Objectives: </strong>The aim of this study was to show that ancillary genetic testing can be used to aid diagnosis and clinical management of GTD.</p><p><strong>Methods: </strong>Each author identified cases where genetic testing, including short tandem repeat (STR) genotyping, ploidy analysis, next-generation sequencing, and immunostaining for p57, the product of the imprinted gene CDKN1C, facilitated accurate diagnosis and improved patient management. Representative cases were chosen to illustrate the value of ancillary genetic testing in different scenarios.</p><p><strong>Outcome: </strong>Genetic analysis of placental tissue can aid in determining the risk of developing gestational trophoblastic neoplasia, facilitating discrimination between low risk triploid (partial) and high risk androgenetic (complete) moles, discriminating between a hydatidiform mole twinned with a normal conceptus and a triploid conception and identification of androgenetic/biparental diploid mosaicism/chimerism. STR genotyping of placental tissue and targeted gene sequencing of patients can identify women with an inherited predisposition to recurrent molar pregnancies. Genotyping can distinguish gestational from non-gestational trophoblastic tumours using tissue or circulating tumour DNA and can also identify the causative pregnancy which is the key prognostic factor for placental site and epithelioid trophoblastic tumours.</p><p><strong>Conclusions and outlook: </strong>STR genotyping and p57 immunostaining have been invaluable to the management of gestational trophoblastic disease in many situations. The use of next-generation sequencing and of liquid biopsies is opening up new pathways for GTD diagnostics. Development of these techniques has the potential to identify novel biomarkers of GTD and further refine diagnosis.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"198-213"},"PeriodicalIF":2.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gynecologic and Obstetric Investigation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000531218","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/5/26 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products of conception, such features are not always present, especially at early stages of pregnancy. Furthermore, mosaic/chimeric pregnancies and twin pregnancies make pathological diagnosis challenging while trophoblastic tumours can also pose diagnostic problems in terms of their gestational or non-gestational origin.

Objectives: The aim of this study was to show that ancillary genetic testing can be used to aid diagnosis and clinical management of GTD.

Methods: Each author identified cases where genetic testing, including short tandem repeat (STR) genotyping, ploidy analysis, next-generation sequencing, and immunostaining for p57, the product of the imprinted gene CDKN1C, facilitated accurate diagnosis and improved patient management. Representative cases were chosen to illustrate the value of ancillary genetic testing in different scenarios.

Outcome: Genetic analysis of placental tissue can aid in determining the risk of developing gestational trophoblastic neoplasia, facilitating discrimination between low risk triploid (partial) and high risk androgenetic (complete) moles, discriminating between a hydatidiform mole twinned with a normal conceptus and a triploid conception and identification of androgenetic/biparental diploid mosaicism/chimerism. STR genotyping of placental tissue and targeted gene sequencing of patients can identify women with an inherited predisposition to recurrent molar pregnancies. Genotyping can distinguish gestational from non-gestational trophoblastic tumours using tissue or circulating tumour DNA and can also identify the causative pregnancy which is the key prognostic factor for placental site and epithelioid trophoblastic tumours.

Conclusions and outlook: STR genotyping and p57 immunostaining have been invaluable to the management of gestational trophoblastic disease in many situations. The use of next-generation sequencing and of liquid biopsies is opening up new pathways for GTD diagnostics. Development of these techniques has the potential to identify novel biomarkers of GTD and further refine diagnosis.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
何时咨询妊娠滋养细胞疾病遗传专科医生?
背景:妊娠滋养细胞疾病包括水滴状痣和一组罕见的滋养细胞恶性肿瘤。虽然有一些典型的形态特征可以将水滴状痣与非臼齿受孕产物区分开来,但这些特征并不总是存在,尤其是在妊娠早期。此外,镶嵌/嵌合妊娠和双胎妊娠使病理诊断具有挑战性,而滋养细胞肿瘤也会在妊娠或非妊娠起源方面造成诊断问题:本研究旨在说明辅助基因检测可用于协助 GTD 的诊断和临床管理:每位作者都确定了一些基因检测病例,包括短串联重复(STR)基因分型、倍性分析、下一代测序和p57(印记基因CDKN1C的产物)免疫染色,这些检测有助于准确诊断和改善患者管理。我们选择了具有代表性的病例来说明辅助基因检测在不同情况下的价值:胎盘组织的基因分析有助于确定妊娠滋养细胞肿瘤的发病风险、区分低风险的三倍体(部分)痣和高风险的雄激素(完全)痣、区分与正常受孕孪生的水滴形痣和三倍体受孕,以及鉴定雄激素/双亲二倍体嵌合/嵌套。对胎盘组织进行 STR 基因分型和对患者进行靶向基因测序,可以确定哪些妇女具有复发性臼齿妊娠的遗传易感性。基因分型可以利用组织或循环肿瘤DNA区分妊娠性滋养细胞肿瘤和非妊娠性滋养细胞肿瘤,还可以确定致病妊娠,这是胎盘部位滋养细胞肿瘤和上皮样滋养细胞肿瘤的关键预后因素:在许多情况下,STR基因分型和p57免疫染色对妊娠滋养细胞疾病的治疗都非常有价值。下一代测序和液体活检的使用为妊娠滋养细胞疾病的诊断开辟了新的途径。这些技术的发展有可能确定GTD的新型生物标记物,并进一步完善诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
4.20
自引率
4.80%
发文量
44
审稿时长
6-12 weeks
期刊介绍: This journal covers the most active and promising areas of current research in gynecology and obstetrics. Invited, well-referenced reviews by noted experts keep readers in touch with the general framework and direction of international study. Original papers report selected experimental and clinical investigations in all fields related to gynecology, obstetrics and reproduction. Short communications are published to allow immediate discussion of new data. The international and interdisciplinary character of this periodical provides an avenue to less accessible sources and to worldwide research for investigators and practitioners.
期刊最新文献
Retraction Statement. The prevalence of occult malignancy in women undergoing hysterectomy or myomectomy for benign indications and the impact of morcellation on survival outcomes: a meta-analysis. Clinical and Ultrasound Features of Normocyclic Non-Hyperandrogenic Adolescents in Early Gynecological Life. Pain level and analgesic requirements in patients who underwent vaginal pelvic floor surgery following general or spinal anesthesia. Validated questionnaires for the assessment of Italian patients with pelvic floor dysfunctions: a systematic review.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1