摘要：Sertoli-Leydig 细胞肿瘤(Sertoli-Leydig cell tumors,SLCT)是1种罕见的卵巢性索-间质肿瘤。目前唯一已知的常见遗传学异常是DICER1突变和少数FOXL2突变。我们利用42例SLCT的DICER1和FOXL2体细胞突变状态以及临床病理特征建立了1个分子分类系统。5例(12%)肿瘤为高分化、31 例(74%)为中分化和6例(14%)为低分化。在10例中分化肿瘤中，8例(19%)伴有异源性成分，2例(5%)表现为网状分化。在18/41 例(44%; 17例中分化，1例低分化)肿瘤中可检测到DICER1 RNase IIIb结构域突变,包括所有具有网状或异源性成分的病例。在8/42 (19%) 例肿瘤中(5 例中分化、3例低分化)可检测到FOXL2 c.402C> G(p.C134W)突变。DICER1和FOXL2突变相互排斥。本研究队列的中位年龄为47岁(范围，15~90岁)。DICER1突变患者(中位数，24.5岁; 范围，15~ 62岁)较FOXL2突变患者(中位数，79.5岁;范围，51~90岁)更年轻(P< 0.0001)。在10例具有网状或异源性成分肿瘤中，有9例发生于绝经前患者(中位数，26.5岁;范围，15~57岁)。DICER1和FOXL2为野生型的肿瘤患者(15/42， 37%)多为中年人(中位数，51岁;范围，17~74岁)。免疫组化染色显示所有肿瘤均为FOXL2阳性。FOXL2突变患者更倾向出现异常出血(P=0.13); DICER1突变患者更倾向出现雄激素性症状(P=0.22)。我们的数据表明，SLCT至少有3种具有明显不同临床病理特征的分子亚型: DICER1 突变型(更年轻、更多雄激素性症状、中/低分化、网状或异源性分),FOXL2突变型(绝经后、异常出血、中/低分化、无网状或异源性成分)及DICER1/FOXL2野生型(中年、无网状或异源性成分、包括所有高分化肿瘤)。
关键词：Sertoli-Leydig 细胞肿瘤，DICER1， FOXL2,异源性成分，网状模式，分子分类系统
(Am J Surg Pathol 2019;43:628- -638)
美国外科病理学杂志中文版2019年第四期正文NO.4
（于丽娜 翻译 梁 莉 审校）
美国外科病理学杂志中文版2019年第四期正文NO.4
（于丽娜 翻译 梁 莉 审校）
The American Journal of Surgical Pathology 中文版版权说明：
©2019 Wolters Kluwer Health.
This material is from Wolters Kluwer Health, and authorize to 91360 Medical Group（Shen Zhen）Co.,Ltd. (91360 Pathologist group) and Shanghai EBM Info Tech Co., Ltd. (CME Window) freely distribute such material to medical professionals. No part of this material may be reproduced in any form, stored in a retrieval system or transmitted in any form, by any means.
Opinions expressed in this material are not necessarily those of Wolters Kluwer or associates. No responsibility is assumed by Wolters Kluwer or associates, for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.
【本文经《美国外科病理学杂志》授权发布，其他媒体转载或引用须经《美国外科病理学杂志》同意 ，否则追究法律责任；所有文章仅供公益交流，不代表本站立场。欢迎提供素材、资料等，投稿邮箱： tougao@91360.com，一经采纳将给予稿费】
©2019 Wolters Kluwer Health.
This material is from Wolters Kluwer Health, and authorize to 91360 Medical Group（Shen Zhen）Co.,Ltd. (91360 Pathologist group) and Shanghai EBM Info Tech Co., Ltd. (CME Window) freely distribute such material to medical professionals. No part of this material may be reproduced in any form, stored in a retrieval system or transmitted in any form, by any means.
Opinions expressed in this material are not necessarily those of Wolters Kluwer or associates. No responsibility is assumed by Wolters Kluwer or associates, for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.
【本文经《美国外科病理学杂志》授权发布，其他媒体转载或引用须经《美国外科病理学杂志》同意 ，否则追究法律责任；所有文章仅供公益交流，不代表本站立场。欢迎提供素材、资料等，投稿邮箱： tougao@91360.com，一经采纳将给予稿费】
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