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[脂肪纤维瘤病样神经肿瘤的临床病理及分子遗传学特征]

[Clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor].

作者信息

Wang H, Chen L

机构信息

Department of Pathology, Children's Hospital of Fudan University, Shanghai 201102, China.

出版信息

Zhonghua Bing Li Xue Za Zhi. 2020 Dec 8;49(12):1272-1275. doi: 10.3760/cma.j.cn112151-20200319-00231.

Abstract

To investigate the clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor(LPF-NT). Three cases of LPF-NT in Children's Hospital of Fudan University from December 2018 to December 2019 were analyzed for their diagnosis and differential diagnosis. One case was male and two cases were females, all of them aged under 1 years old. The clinical manifestation of LPF-NT was a local infiltrative growth mass in subcutaneous tissue. There were no specific radiologic features. Histologically, dense fascicles or compact sheets of spindle cells showed infiltration into subcutaneous adipose tissue. Spindle cells displayed a moderate degree of nuclear atypia with mitotic activity cells.Immunohistochemical study showed the tumor cells diffusely expressed S-100 protein, CD34, NTRKI, and pan-TRK. Fluorescence in situ hybridization detected rearrangement of NTRK1 gene in all 3 cases tested. LPF-NT is a newly named soft tissue tumor. Histological morphology, immunohistochemistry and molecular detection are helpful for the diagnosis and differential diagnosis of the disease.

摘要

探讨脂肪纤维瘤样神经肿瘤(LPF-NT)的临床病理及分子遗传学特征。对2018年12月至2019年12月复旦大学附属儿科医院收治的3例LPF-NT患者进行诊断及鉴别诊断分析。其中男性1例,女性2例,年龄均在1岁以下。LPF-NT的临床表现为皮下组织局限性浸润性生长肿块,无特异性影像学特征。组织学上,致密的束状或紧密排列的梭形细胞浸润皮下脂肪组织,梭形细胞显示中度核异型性,可见有丝分裂活性细胞。免疫组织化学研究显示肿瘤细胞弥漫性表达S-100蛋白、CD34、NTRKI和泛TRK。荧光原位杂交检测发现所有3例检测病例均存在NTRK1基因重排。LPF-NT是一种新命名的软组织肿瘤,组织形态学、免疫组织化学及分子检测有助于该病的诊断及鉴别诊断。

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