伴有色素分化的Xp11易位性肿瘤/“伴有黑色素分化的TFE3基因重排的软组织肿瘤”5例临床病理分析  

Xp11 translocation neoplasms with melanotic differentiation/melanotic TFE3-rearrangement soft tissue neoplasms:a clinicopathological analysis of five cases

作　　者：周迪炜 雷萍[2] 谢玲玲 郑琴 罗丹菊 翁密霞 李雪飞 曹沁 聂秀[1] 杨明 ZHOU Diwei;LEI Ping;XIE Lingling;ZHENG Qin;LUO Danju;WENG Mixia;LI Xuefei;CAO Qin;NIE Xiu;YANG Ming(Department of Pathology,the Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China;Department of Radiology,the Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China)

机构地区：[1]华中科技大学同济医学院附属协和医院病理科,武汉430022 [2]华中科技大学同济医学院附属协和医院放射科,武汉430022

出　　处：《临床与实验病理学杂志》2024年第8期812-817,共6页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨伴有色素分化的Xp11易位性肿瘤/“伴有黑色素分化的TFE3基因重排的软组织肿瘤”的临床病理特征、免疫表型、分子特征及预后。方法收集5例伴有色素分化的Xp11易位性肿瘤/“伴有黑色素分化的TFE3基因重排的软组织肿瘤”的临床病理资料,行免疫组化EnVision法、组织化学染色、FISH、二代测序(NGS)及随访,并进行文献复习。结果5例患者中男性1例,女性4例。发病年龄16~59岁,平均28.2岁。肿瘤最大径3.0~6.0 cm(平均4.7 cm)。发病部位:右侧肾脏3例(其中1例发生胸椎转移),左侧输卵管间质与圆韧带之间1例,盆腔部位1例。组织学上,肿瘤由丰富的纤维血管网分隔成巢状、腺泡状结构,胞质透亮或嗜酸性、颗粒样,胞质内不同程度的出现黑色素聚集;间质内可见淋巴细胞浸润;4例检出肿瘤性坏死;核分裂象<3个/10 HPF;2例检出个别脉管内瘤栓,其余3例均未检出脉管内瘤栓及神经侵犯。免疫表型:5例TFE3均弥漫强阳性,HMB45及Melan A不同程度阳性;CK(AE1/AE3)、CK7、EMA、PAX8、TFEB、S-100、SOX10、SMA、desmin均阴性;Ki67增殖指数<20%。FISH检测:TFE3分离探针显示4例存在明确的TFE3分离信号,1例因信号不典型判读为阴性,经NGS检测证实为RBM10-TFE3基因融合。5例均获得随访:随访时间2~60个月,患者均存活,4例无瘤生存,1例胸椎转移患者情况稳定且未进展。结论伴有色素分化的Xp11易位性肿瘤/“伴有黑色素分化的TFE3基因重排的软组织肿瘤”具有独特的形态学特征、免疫表型及分子遗传学改变,建议作为一种独立的恶性间叶性肿瘤实体进行分类。Purpose To investigate the clinicopathologic,immunophenotypic features,genetic alterations and prognosis of melanotic Xp11 neoplasms/melanotic TFE3-rearrangement neoplasms.Methods Five cases were selected from the Department of Pathology,Union Hospital,Huazhong University of Science and Technology from November 2018 to July 2023.The clinicopathologic,immunohistochemical,FISH assays,next-generation sequencing(NGS)and follow-up details were collected.Results There were 1 male and 4 females,with their ages ranging from 16 to 59 years(mean 28.2 years).The maximum diameters of the masses were 3-6 cm(average 4.7 cm).The tumors located in right kidneys(3 cases),tubal interstitium(1 case)and pelvis(1 case).Microscopically,most tumors shared similar morphology such as nested,acinar structures separated by a delicate vascular network.Epithelioid tumor cells presented with clear to granular eosinophilic cytoplasm.Lymphocytic infiltration was seen in the background;melanin deposition was noted in the cases;neoplastic necrosis was detected in 4 cases.Mitotic activity was low with 5 cases showing<3/10 HPF.Intravascular tumor thrombus was detected in 2 cases,no lymphovascular and nerve invasions were detected in other 3 cases.Immunohistochemically,all 5 cases expressed TFE3 diffusely,and expressed HMB45,Melan A to varying degrees,CK(AE1/AE3),CK7,EMA,PAX8,TFEB,S-100,SOX10,SMA,desmin were all non-reactive in the 5 cases.The Ki67-labeling index was<20%.TFE3 separation signal in 4 cases were detected by FISH,1 case was interpreted as negative due to atypical signal which was confirmed by next-generation sequencing(NGS)assay as RBM10-TFE3.Clinical follow-up was available for five patients for 2-60 months,in which four patients were alive with no evidence of disease after initial resection,and one patient with thoracic spine metastasis was currently in stable condition.Conclusion Melanotic Xp11 neoplasms/melanotic TFE3-rearrangement neoplasms has unique morphologic,immunophenotypic and genetic characteristics.It might be reclassified

关 键 词：Xp11易位性肿瘤 黑色素分化 TFE3 基因重排 荧光原位杂交 

分 类 号：R738.6[医药卫生—肿瘤]