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Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.

一种特殊亚型的高级别子宫内膜间质肉瘤:形态学类似黏液样型平滑肌肉瘤

Hoang LN,Aneja A,Conlon N,Delair DF,Middha S,Benayed R,Hensley ML,Park KJ,Hollmann TJ,Hameed MR,Antonescu CR,Soslow RA,Chiang S

Abstract

Endometrial stromal sarcomas (ESS) are often underpinned by recurrent chromosomal translocations resulting in the fusion of genes involved in epigenetic regulation. To date, only YWHAE-NUTM2 rearrangements are associated with distinctive high-grade morphology and aggressive clinical behavior. We identified 3 ESS morphologically mimicking myxoid leiomyosarcoma of the uterus and sought to describe their unique histopathologic features and identify genetic alterations using next-generation sequencing. All cases displayed predominantly spindled cells associated with abundant myxoid stroma and brisk mitotic activity. Tumors involved the endometrium and demonstrated tongue-like myometrial infiltration. All 3 were associated with an aggressive clinical course, including multisite bony metastases in 1 patient, progressive peritoneal disease after chemotherapy in another, and metastases to the lung and skin in the last patient. All 3 ESS were found to harbor ZC3H7B-BCOR gene fusions by targeted sequencing and fluorescence in situ hybridization. On the basis of the review of these cases, we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade ESS and shares significant morphologic overlap with myxoid leiomyosarcoma.

摘要

子宫内膜间质肉瘤(ESS)往往具有染色体易位导致的基因融合、最终调控表观遗传学的改变。迄今为止,仅发现YWHAE-NUTM2重排与高级别形态学和侵袭性的临床生物学行为有关。

本文作者报道3例形态学上类似子宫黏液样型平滑肌肉瘤的ESS,并描述其独特的组织病理学特征,通过采用新一代测序确定其基因遗传学改变。3例组织形态学上均以梭形细胞为主,伴丰富的黏液样基质和活跃的核分裂活性;肿瘤累及子宫内膜,并且舌状浸润子宫肌层。3例均表现为侵袭性的临床过程,第1例患者发生多发性骨转移,第2例患者化疗后出现了腹腔疾病的进展,第3例出现了肺和皮肤的转移。通过靶向测序和荧光原位杂交技术发现,3例均存在ZC3H7B-BCOR基因融合。

在回顾性复习这些病例的基础上,作者发现伴ZC3H7B-BCOR基因融合的ESS构成了高级别ESS一种新的亚型,并且该亚型与黏液样型平滑肌肉瘤在形态学上有显著的重叠。

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