{"title":"卵巢性索间质肿瘤:分子事件概述以及如何将形态学与分子发现联系起来。","authors":"Joseph T Rabban, W Glenn McCluggage","doi":"10.1097/PAP.0000000000000474","DOIUrl":null,"url":null,"abstract":"<p><p>Since the discovery in 2009 that missence pathogenic variants/mutations in FOXL2 are extremely common in ovarian adult granulosa cell tumours, the last 2 decades have witnessed significant developments in our understanding of the molecular events underlying the pathogenesis of other ovarian sex cord-stromal tumours (SCSTs). In this review, we cover the molecular events in ovarian SCSTs and provide practical guidance to the reporting pathologist as to how and when molecular testing may be useful in diagnosis. We stress the need to correlate the morphology and molecular since most of the molecular events are not entirely specific for a particular tumour type and our knowledge is continually evolving with the elucidation of \"new\" molecular events. We also discuss that in some tumours, molecular testing is helpful in triaging the patient for genetic referral and germline testing since some of the molecular events may be germline in nature.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"70-84"},"PeriodicalIF":5.1000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ovarian Sex Cord-Stromal Neoplasms: An Overview of Molecular Events and How to Correlate Morphology With Molecular Findings.\",\"authors\":\"Joseph T Rabban, W Glenn McCluggage\",\"doi\":\"10.1097/PAP.0000000000000474\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Since the discovery in 2009 that missence pathogenic variants/mutations in FOXL2 are extremely common in ovarian adult granulosa cell tumours, the last 2 decades have witnessed significant developments in our understanding of the molecular events underlying the pathogenesis of other ovarian sex cord-stromal tumours (SCSTs). In this review, we cover the molecular events in ovarian SCSTs and provide practical guidance to the reporting pathologist as to how and when molecular testing may be useful in diagnosis. We stress the need to correlate the morphology and molecular since most of the molecular events are not entirely specific for a particular tumour type and our knowledge is continually evolving with the elucidation of \\\"new\\\" molecular events. We also discuss that in some tumours, molecular testing is helpful in triaging the patient for genetic referral and germline testing since some of the molecular events may be germline in nature.</p>\",\"PeriodicalId\":7305,\"journal\":{\"name\":\"Advances In Anatomic Pathology\",\"volume\":\" \",\"pages\":\"70-84\"},\"PeriodicalIF\":5.1000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Advances In Anatomic Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/PAP.0000000000000474\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/4 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances In Anatomic Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/PAP.0000000000000474","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/4 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
Ovarian Sex Cord-Stromal Neoplasms: An Overview of Molecular Events and How to Correlate Morphology With Molecular Findings.
Since the discovery in 2009 that missence pathogenic variants/mutations in FOXL2 are extremely common in ovarian adult granulosa cell tumours, the last 2 decades have witnessed significant developments in our understanding of the molecular events underlying the pathogenesis of other ovarian sex cord-stromal tumours (SCSTs). In this review, we cover the molecular events in ovarian SCSTs and provide practical guidance to the reporting pathologist as to how and when molecular testing may be useful in diagnosis. We stress the need to correlate the morphology and molecular since most of the molecular events are not entirely specific for a particular tumour type and our knowledge is continually evolving with the elucidation of "new" molecular events. We also discuss that in some tumours, molecular testing is helpful in triaging the patient for genetic referral and germline testing since some of the molecular events may be germline in nature.
期刊介绍:
Advances in Anatomic Pathology provides targeted coverage of the key developments in anatomic and surgical pathology. It covers subjects ranging from basic morphology to the most advanced molecular biology techniques. The journal selects and efficiently communicates the most important information from recent world literature and offers invaluable assistance in managing the increasing flow of information in pathology.