Novel MEIS1-NCOA2 Gene Fusions Define a Distinct Primitive Spindle Cell Sarcoma of the Kidney.
Novel MEIS1-NCOA2 Gene Fusions Define a Distinct Primitive Spindle Cell Sarcoma of the Kidney.
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DOI：
10.1097/pas.0000000000001140
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发表时间：
2018-11
期刊：
影响因子：
--
通讯作者：
Antonescu CR
中科院分区：
文献类型：
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作者：
Argani P;Reuter VE;Kapur P;Brown JE;Sung YS;Zhang L;Williamson R;Francis G;Sommerville S;Swanson D;Dickson BC;Antonescu CR
我们描述了两例不同的肉瘤的特点是一种新的MEIS 1-NCOA 2基因融合。在两名成人（21岁男性，72岁女性）的肾肿瘤中鉴定出这种基因融合。在组织学上，切除的肾脏肿瘤有一个独特的结节外观，而一个肾脏肿瘤主要是囊性的，其他表现出坚实的建筑，肾周脂肪的入侵，肾窦血管入侵。肿瘤的特点主要是单形丰满梭形细胞排列在模糊的束状带螺纹图案，但是，也注意到一个更原始的小圆形细胞成分。两例肿瘤均为有丝分裂活跃，1例显示坏死。肿瘤没有一个独特的免疫组织化学谱，虽然都标记为TLE 1。其形态特征与其他NCOA 2基因融合相关的肉瘤不同，包括间叶性软骨肉瘤、先天性/婴儿梭形细胞横纹肌肉瘤和软组织血管纤维瘤。虽然我们有最少的临床随访，这些肿瘤的侵袭性组织学特征表明恶性潜能，因此将其分类为肉瘤的新亚型。
We describe two cases of a distinct sarcoma characterized by a novel MEIS1-NCOA2 gene fusion. This gene fusion was identified in the renal neoplasms of two adults (21 year-old male, 72 year-old female). Histologically, the resected renal neoplasms had a distinctively nodular appearance, and while one renal neoplasm was predominantly cystic, the other demonstrated solid architecture, invasion of perirenal fat, and renal sinus vasculature invasion. The neoplasms were characterized predominantly by monomorphic plump spindle cells arranged in vague fascicles with a whorling pattern; however, a more primitive small round cell component was also noted. Both neoplasms were mitotically active and one case showed necrosis. The neoplasms did not have a distinctive immunohistochemical profile, though both labeled for TLE1. The morphologic features are distinct from other sarcomas associated with NCOA2 gene fusions, including mesenchymal chondrosarcoma, congenital/infantile spindle cell rhabdomyosarcoma, and soft tissue angiofibroma. While we have minimal clinical follow-up, the aggressive histologic features of these neoplasms indicate malignant potential, thus warranting classification as a novel subtype of sarcoma.