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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相关联

Ovarian Sex Cord-Stromal Neoplasms: An Overview of Molecular Events and How to Correlate Morphology With Molecular Findings.

作者信息

Rabban Joseph T, McCluggage W Glenn

机构信息

Department of Pathology, University of California San Francisco Medical Center, San Francisco, CA.

Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, United Kingdom.

出版信息

Adv Anat Pathol. 2025 Jan 1;32(1):70-84. doi: 10.1097/PAP.0000000000000474. Epub 2024 Nov 4.

Abstract

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.

摘要

自2009年发现FOXL2基因的错义致病性变异/突变在卵巢成人颗粒细胞瘤中极为常见以来,在过去20年里,我们对其他卵巢性索间质肿瘤(SCST)发病机制背后分子事件的理解有了重大进展。在本综述中,我们阐述了卵巢SCST中的分子事件,并就分子检测在何时以及如何有助于诊断为报告病理学家提供实用指导。我们强调形态学和分子学相互关联的必要性,因为大多数分子事件并非特定肿瘤类型所特有,且随着“新”分子事件的阐明,我们的认知也在不断发展。我们还讨论了在某些肿瘤中,分子检测有助于对患者进行分类以便进行基因转诊和种系检测,因为某些分子事件可能本质上是种系的。

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