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子宫体富于脂肪性化生的梭形细胞肉瘤:具有 MEIS1-NCOA2 基因融合的肿瘤形态谱的扩展。

Spindle Cell Sarcoma of the Uterine Corpus With Adipose Metaplasia: Expanding the Morphologic Spectrum of Neoplasms With MEIS1-NCOA2 Gene Fusion.

出版信息

Int J Gynecol Pathol. 2022 Jul 1;41(4):417-422. doi: 10.1097/PGP.0000000000000803. Epub 2021 Jun 23.

Abstract

We report a spindle cell sarcoma arising in the uterine corpus of a 26-yr-old patient. The patient underwent a simple hysterectomy and the uterine corpus contained a 9 cm tumor showing nodular and "finger-like" myometrial invasion. Histologically, the tumor was composed of a monomorphic population of atypical spindle cells which contained widespread foci of cytologically benign adipocytes. Immunohistochemistry revealed diffuse strong positivity for CD10, CD56, and CD99 and diffuse weak positive staining with ER and WT1 while smooth muscle markers, S100, TLE1, and cyclin D1 were negative. Total RNA sequencing identified an in-frame fusion between exon 6 of MEIS1 and exon 12 of NCOA2. Copy number analysis revealed few aberrations with no deletions or amplifications identified. No adjuvant therapy was given and the patient is disease-free 9 yr after initial diagnosis. This case represents the second report of a uterine sarcoma harboring a MEIS1-NCOA2/1 gene fusion and expands the morphologic spectrum of recently reported spindle cell sarcomas arising in the genitourinary tract harboring MEIS1-NCOA2/1 gene fusions. This is the first reported case of such tumors with an adipocytic component.

摘要

我们报告了一例发生在 26 岁患者子宫体的梭形细胞肉瘤。患者接受了单纯子宫切除术,子宫内含有 9cm 大小的肿瘤,呈结节状和“手指状”子宫肌层浸润。组织学上,肿瘤由形态单一的异型梭形细胞组成,广泛存在细胞形态良性的脂肪细胞灶。免疫组织化学显示 CD10、CD56 和 CD99 弥漫强阳性,ER 和 WT1 弥漫弱阳性,而平滑肌标志物 S100、TLE1 和 cyclin D1 为阴性。总 RNA 测序发现 MEIS1 外显子 6 与 NCOA2 外显子 12 之间的框内融合。拷贝数分析显示很少有异常,没有发现缺失或扩增。没有给予辅助治疗,患者在初始诊断后 9 年无病生存。该病例是第二个报道的含有 MEIS1-NCOA2/1 基因融合的子宫肉瘤,扩展了最近报道的在含有 MEIS1-NCOA2/1 基因融合的泌尿生殖道中发生的梭形细胞肉瘤的形态谱。这是首例报道具有脂肪细胞成分的此类肿瘤。

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