我们报道了5例与CRTC1-TRIM11融合基因相关的、伴有黑色素细胞免疫表型的原发性真皮内结节性非色素性肿瘤。本组病例包含3例女性、2例男性（25～82岁，中位年龄28岁），临床表现为无特定形状、缓慢生长的皮肤结节。病变大小为4-12mm(中位大小5mm)。肿瘤完全位于皮肤真皮层，呈结节状生长。肿瘤细胞呈融合的巢状及束状排列。2例出现了中央纤维坏死区。细胞大小中到大，呈梭形或上皮样并有显著核仁，有时可出现多核。细胞核通常具有异型性，热点区域的核分裂数为1-5/mm²。免疫组织化学染色S100、MITF和SOX10恒定阳性，MelanA或HMB45具有异质性。NTRK1在3例肿瘤中呈强阳性，所有病例经RNA测序发现了恒定的CRTC1(e1)-TRIM11(e2)融合，并且通过TRIM11分离探针的FISH检测证实。免疫组化染色显示4/4例TRIM11呈现核的阳性表达。荧光原位杂交技术未检出NTRK1或EWSR1基因重排，阵列比较基因组杂交未显示改变(1例）或仅显示整个7号染色体的获得（2例）。随访期间[3～72个月（中位随访时间，14个月）]未发现复发或转移事件。皮肤透明细胞肉瘤是其主要的鉴别诊断。与之前描述的原发性真皮黑色素瘤和副神经节细胞瘤样黑色素细胞肿瘤在形态学特征上有重叠。CRTC1-TRIM11融合基因可能对伴有黑色素细胞免疫表型的非色素性结节性肿瘤具有特异性，这种肿瘤具有低级别肿瘤的生物学行为。

Am J Surg Pathol 2018;42:382-391

美国外科病理学杂志中文版2018年第三期摘要No.7

何鑫 翻译 张红英 审校

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