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。

IF 8.3 2区 材料科学 Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY ACS Applied Materials & Interfaces Pub Date : 2024-11-04 DOI:10.1097/PAP.0000000000000474
Joseph T Rabban, W Glenn McCluggage
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引用次数: 0

摘要

自 2009 年发现 FOXL2 错义致病变体/突变在卵巢成人颗粒细胞瘤中极为常见以来,过去 20 年中,我们对其他卵巢性索-基质肿瘤(SCST)发病机制的分子事件的认识取得了重大进展。在本综述中,我们将介绍卵巢性索间质瘤的分子事件,并就分子检测如何以及何时可用于诊断为报告病理学家提供实用指导。我们强调需要将形态学和分子学联系起来,因为大多数分子事件并不完全针对某一特定肿瘤类型,而且随着 "新 "分子事件的阐明,我们的知识也在不断发展。我们还讨论了在某些肿瘤中,分子检测有助于将患者分流至基因转诊和种系检测,因为某些分子事件可能是种系性的。
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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.

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来源期刊
ACS Applied Materials & Interfaces
ACS Applied Materials & Interfaces 工程技术-材料科学:综合
CiteScore
16.00
自引率
6.30%
发文量
4978
审稿时长
1.8 months
期刊介绍: ACS Applied Materials & Interfaces is a leading interdisciplinary journal that brings together chemists, engineers, physicists, and biologists to explore the development and utilization of newly-discovered materials and interfacial processes for specific applications. Our journal has experienced remarkable growth since its establishment in 2009, both in terms of the number of articles published and the impact of the research showcased. We are proud to foster a truly global community, with the majority of published articles originating from outside the United States, reflecting the rapid growth of applied research worldwide.
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