{"title":"何时咨询妊娠滋养细胞疾病遗传专科医生?","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":"{\"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}","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}
When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.
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.
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.