Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.
Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.
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DOI：
10.1097/pas.0000000000000721
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发表时间：
2017-01
期刊：
影响因子：
--
通讯作者：
Chiang S
中科院分区：
文献类型：
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作者：
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
子宫内膜间质肉瘤（ESS）通常由复发性染色体易位引起参与表观遗传调控的基因融合。迄今为止，只有YWHAE-NUTM2重排与独特的高级别形态和侵袭性临床行为有关。我们鉴定了3个ESS在形态上模仿子宫粘液样平滑肌肉瘤，并试图描述其独特的组织病理学特征，并使用下一代测序鉴定遗传改变。所有病例均以梭形细胞为主，伴有丰富的黏液样基质和活跃的有丝分裂活动。肿瘤累及子宫内膜，表现为舌样子宫内膜浸润。所有3例患者均伴有侵袭性临床病程，包括1例患者多发性骨转移，另1例患者化疗后腹膜疾病进展，最后1例患者转移至肺和皮肤。通过靶向测序和荧光原位杂交，发现3种ESS均含有ZC3H7B-BCOR基因融合。在回顾这些病例的基础上，我们发现ESS合并ZC3H7B-BCOR融合是一种新型的高级别ESS，与黏液样平滑肌肉瘤具有显著的形态学重叠。
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.