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TRPS1在结节性筋膜炎中的表达及意义OA

Expression and significance of TRPS1 in nodular fasciitis

中文摘要英文摘要

目的:结节性筋膜炎(nodular fasciitis,NF)是一种良性反应性肌成纤维细胞增生性病变,因梭形细胞形态多变,易与低度恶性软组织肿瘤混淆.USP6基因重排虽为其重要分子特征,但常规诊断仍需结合形态学及免疫表型综合判断.毛鼻指综合征1型蛋白(trichorhinophalangeal syndrome type 1 protein,TRPS1)作为乳腺癌常用标志物,近年来发现其在部分非乳腺肿瘤和反应性间质细胞中亦可表达,其在NF中的表达特征尚未明确.本研究旨在探讨TRPS1在NF中的表达特征及其临床病理意义.方法:收集苏州大学附属第一医院2021年12月至2026年1月诊断的20例经USP6荧光原位杂交(fluorescence in situ hybridization,FISH)检测证实的NF患者的组织标本,采用免疫组织化学方法检测TRPS1的表达,并分析其与临床病理参数的关系.结果:20例NF中TRPS1阳性17例(85%),主要定位于梭形细胞胞核.阳性患者以中等及以上强度表达为主,且在部分患者中呈广泛分布.根据免疫组织化学评分的中位数分组,TRPS1高表达组患者年龄低于低表达组,差异具有统计学意义(P=0.025),而2组肿瘤最大径、病程、Ki-67及性别差异均无统计学意义(均P>0.05).结论:TRPS1在NF中表达较为常见,部分患者可呈较高水平表达,提示TRPS1可表达于反应性肌成纤维细胞性病变,可能反映病变的活化状态,而其与USP6基因重排之间是否存在关联尚需进一步研究.TRPS1非肿瘤特异性标志物,在软组织梭形细胞病变中的应用需谨慎解读,以免误诊.

Objective:Nodular fasciitis(NF)is a benign reactive myofibroblastic proliferative lesion.Because of the variable morphology of its spindle cells,NF can be confused with low-grade malignant soft tissue tumors.Although USP6 gene rearrangement is an important molecular feature of NF,routine diagnosis still requires integrated assessment of morphology and immunophenotype.Trichorhinophalangeal syndrome type 1 protein(TRPS1),a commonly used marker for breast carcinoma,has recently been found to be expressed in some non-breast tumors and reactive stromal cells;however,its expression characteristics in NF remain unclear.This study aims to investigate the expression pattern of TRPS1 in NF and its clinicopathological significance. Methods:Twenty patients with NF diagnosed at the First Affiliated Hospital of Soochow University between December 2021 and January 2026 and confirmed by fluorescence in situ hybridization(FISH)for USP6 rearrangement were included.TRPS1 expression was detected by immunohistochemistry,and its associations with clinicopathological parameters were analyzed. Results:TRPS1 positivity was observed in 17 of 20 NF cases(85%),with staining predominantly localized to the nuclei of spindle cells.Positive cases mainly showed moderate-to-strong staining intensity,and diffuse staining was observed in some cases.According to grouping based on the median immunohistochemical score,patients in the TRPS1 high-expression group were younger than those in the low-expression group,with a statistically significant difference(P=0.025).No statistically significant differences were observed between the 2 groups in maximum tumor diameter,disease duration,Ki-67 proliferation index,or sex(all P>0.05). Conclusion:TRPS1 expression is relatively common in NF,and some cases may show high-level expression,suggesting that TRPS1 can be expressed in reactive myofibroblastic lesions and may reflect an activated lesional state.Whether TRPS1 expression is associated with USP6 gene rearrangement requires further investigation.TRPS1 is not a tumor-specific marker,and its expression in spindle-cell lesions of soft tissue should be interpreted with caution to avoid misdiagnosis.

杨倩倩;郭凌川;杨红丽;刘文婷

苏州大学附属第一医院病理科,苏州 215006苏州大学附属第一医院病理科,苏州 215006苏州大学附属第一医院病理科,苏州 215006苏州大学附属第一医院病理科,苏州 215006

医药卫生

结节性筋膜炎毛鼻指综合征1型蛋白USP6基因荧光原位杂交免疫组织化学

nodular fasciitistrichorhinophalangeal syndrome type 1 proteinUSP6 genefluorescence in situ hybridizationimmunohistochemistry

《临床与病理杂志》 2026 (8)

1186-1193,8

江苏省卫生健康委员会医学科研项目(MQ2025022).This work was supported by the Jiangsu Provincial Health Commission Medical Research Project,China(MQ2025022).

10.11817/j.issn.2095-6959.2026.260216

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