A Novel EPC1 :: KDM2B Fusion in High-grade Endometrial Stromal Sarcoma.

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-11-01 Epub Date: 2024-03-11 DOI:10.1097/PGP.0000000000001026
Katherine M Vroobel, Sana Khalid, Silvia Cavalchini, Ayoma D Attygalle
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Abstract

The spectrum of endometrial stromal sarcoma (ESS) has expanded substantially since the publication of the most recent World Health Organisation (WHO) Classification of Female Genital Tumours and the advent of widely available genomic testing. We describe a uterine mesenchymal tumor harboring a novel EPC1 :: KDM2B fusion, best classified within the umbrella of high-grade endometrial stromal sarcoma (HGESS). This tumor was composed of a uniform population of spindled cells with some myxoid stroma, a mitotic rate of up to 21/10 high-power fields, and a largely pushing margin with focal vascular invasion. Immunohistochemistry showed strong and diffuse cyclin D1 positivity while CD10, WT1, DOG1, CD117, CD34, CD99, S100, MelanA, SMA, desmin, and h-caldesmon were negative. The tumor was confined to the uterus and no recurrence has been detected thus far, albeit with a short follow-up interval of 9 mo.

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高级别子宫内膜间质肉瘤中的新型 EPC1::KDM2B 融合体
自世界卫生组织(WHO)发布最新的《女性生殖器肿瘤分类》以及基因组检测广泛应用以来,子宫内膜间质肉瘤(ESS)的范围已大幅扩大。我们描述了一种携带新型EPC1::KDM2B融合体的子宫间质肿瘤,该肿瘤最好归类为高级别子宫内膜间质肉瘤(HGESS)。该肿瘤由均匀的纺锤形细胞群组成,伴有一些肌样基质,有丝分裂率高达 21/10 个高倍视野,边缘基本呈推移状,有局灶性血管侵犯。免疫组化显示细胞周期蛋白 D1 呈弥漫性强阳性,而 CD10、WT1、DOG1、CD117、CD34、CD99、S100、MelanA、SMA、desmin 和 h-caldesmon 阴性。肿瘤局限在子宫内,尽管随访时间只有短短的 9 个月,但迄今为止尚未发现复发。
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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
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