临床与实验病理学杂志2026，Vol.42Issue(1)：71-77,7.DOI:10.13315/j.cnki.cjcep.2026.01.010
隆突性皮肤纤维肉瘤病理诊断的单中心研究:189例会诊病例的临床病理综合分析
A single-center study on the pathological diagnosis of dermatofibrosarcoma protu-berans:comprehensive clinicopathological analysis of 189 consultation cases
摘要
Abstract
Objective To investigate the histopathological features,immunophenotypic characteristics,molecu-lar genetic alterations,diagnosis,and differential diagnosis of dermatofibrosarcoma protuberans(DFSP),in order to improve the understanding of DFSP and avoid misdiagnosis.Methods We retrospectively analyzed the histomorphol-ogy,immunophenotype,and molecular characteristics of DFSP cases consulted in our hospital from January 2018 to May 2024,and relevant literatures were reviewed.Results Among 201 consultation cases,189 patients,with an av-erage age of 36 years,were ultimately diagnosed with DFSP,including 7.9%pediatric cases.Tumors predominantly occurred on the trunk and head/neck regions.There was a significant cellular atypia leading to transformation into the subtype of fibrosarcomatous DFSP(FS-DFSP)in 16.9%of cases.CD34 expression at varying levels was detected in 96.3%(182/181)of cases.The COL1A1-PDGFB gene fusion was identified in most cases(98.8%).Diagnostic dis-crepancies were observed in 12 cases(6.0%,12/201).Among these,9 had been initially diagnosed as DFSP at ex-ternal institutions,and 7 of these 9 were ultimately reclassified as cellular fibrous histiocytoma upon consultation re-view at our center.Conclusion DFSP represents a rare intermediate-grade tumor whose accurate diagnosis and differ-entiation from histologic mimics require comprehensive analysis integrating histopathological evaluation,immunophe-notypic profiling,and molecular genetic testing.Notably,the combined detection of CD34 expression and COL1A1-PDGFB gene fusion provides critical diagnostic evidence for DFSP confirmation.关键词
隆突性皮肤纤维肉瘤/临床病理特征/鉴别诊断/免疫组织化学/荧光原位杂交Key words
dermatofibrosarcoma protuberans/clinicopathologic feature/differential diagnosis/immunohistochemis-try/fluorescence in situ hybridization分类
医药卫生引用本文复制引用
崔俊祺,陈骏,朱金潮,饶娅敏..隆突性皮肤纤维肉瘤病理诊断的单中心研究:189例会诊病例的临床病理综合分析[J].临床与实验病理学杂志,2026,42(1):71-77,7.基金项目
上海市科学技术委员会"科技创新行动计划"科学仪器项目(22142202500) Shanghai Municipal Science and Technology Commission"Science and Technology Innovation Ac-tion Plan"Scientific Instrument Project(22142202500) （22142202500）
