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子宫肿瘤样卵巢性索肿瘤(UTROSCT)通常对性索标记物FOXL2和SF-1呈阳性反应,但缺乏FOXL2和DICER1突变。

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations.

作者信息

Croce Sabrina, de Kock Leanne, Boshari Talia, Hostein Isabelle, Velasco Valerie, Foulkes William D, McCluggage W Glenn

机构信息

Department of Pathology (S.C., I.H., V.V.), Centre Regional de Lutte Contre Le Cancer, Bordeaux, France Department of Human Genetics (L.d.K., W.D.F.), McGill University Segal Cancer Centre (L.d.K., W.D.F.), Lady Davis Institute, Jewish General Hospital Department of Medical Genetics (T.B., W.D.F.), Research Institute of the McGill University Health Centre Program in Cancer Genetics (W.D.F.), Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada Department of Pathology (W.G.M.C.), Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.

出版信息

Int J Gynecol Pathol. 2016 Jul;35(4):301-8. doi: 10.1097/PGP.0000000000000240.

Abstract

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare neoplasm which morphologically and immunohistochemically exhibits overlap with an ovarian sex cord tumor. Although many of these neoplasms are positive with markers of ovarian sex cord-stromal tumors, staining is often limited and the pathogenesis of UTROSCT is unknown. To further explore the sex cord lineage of UTROSCT, we studied 19 of these neoplasms and examined the expression of 2 recently described markers of ovarian sex cord-stromal tumors, FOXL2, and steroidogenic factor-1. We also undertook FOXL2 and DICER1 mutation analysis in these cases; a somatic missense mutation in codon C134W (402C→G) of FOXL2 gene has been demonstrated in the vast majority (>95%) of ovarian adult granulosa cell tumors and somatic DICER1 mutations are found in approximately 60% of ovarian Sertoli-Leydig cell tumors. Ten of 19 cases (53%) exhibited nuclear immunoreactivity with FOXL2 and 11 of 19 (58%) exhibited nuclear staining with steroidogenic factor-1. Neither FOXL2 nor DICER1 mutations were identified in any case where there was sufficient tumor tissue for analysis (18 and 9 cases, respectively). Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of UTROSCT.

摘要

子宫肿瘤样卵巢性索肿瘤(UTROSCT)是一种罕见的肿瘤,其形态学和免疫组织化学表现与卵巢性索肿瘤有重叠。尽管这些肿瘤中的许多对卵巢性索间质肿瘤标志物呈阳性,但染色通常有限,且UTROSCT的发病机制尚不清楚。为了进一步探索UTROSCT的性索谱系,我们研究了其中19例肿瘤,并检测了最近描述的两种卵巢性索间质肿瘤标志物FOXL2和类固醇生成因子-1的表达。我们还对这些病例进行了FOXL2和DICER1突变分析;在绝大多数(>95%)的卵巢成人颗粒细胞瘤中已证实FOXL2基因第134位密码子(402C→G)存在体细胞错义突变,在约60%的卵巢支持-间质细胞瘤中发现了体细胞DICER1突变。19例中有10例(53%)FOXL2呈核免疫反应阳性,19例中有11例(58%)类固醇生成因子-1呈核染色阳性。在有足够肿瘤组织进行分析的任何病例中(分别为18例和9例)均未发现FOXL2和DICER1突变。尽管UTROSCT表现出性索间质肿瘤的免疫表型特征,但FOXL2和DICER1突变,这两种迄今为止在卵巢性索间质肿瘤中报道最常见的突变,并非UTROSCT的特征。

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