Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treat...Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treatment,which acts by blocking platelet-derived growth factor receptor-beta kinase activity.Apart from this canonical fusion,there is an expanding spectrum of rare fusions,including COL6A3::PDGFD,EMILIN::PDGFD,TNC::PDGFD,etc.,through mole-cular profiling.These atypical rearrangements may be encountered in morpho-logically classic DFSP,unusual anatomic sites,or diagnostically challenging variants such as fibrosarcomatous DFSP.Their recognition is clinically relevant,as they may influence tumor biology,response to targeted therapy,and eligibility for clinical trials.This newly documented DFSP involving the lacrimal sac was initially misdiagnosed as a solitary fibrous tumor,emphasizing the diagnostic pitfalls in anatomically constrained regions and the importance of integrated diagnosis combining histology,immunohistochemistry,and molecular testing.In this editorial commentary,we briefly highlight the ever-growing genomic land-scape of DFSP,report rare fusions and their biological implications,and examine the role of expanded molecular diagnostics in refining diagnosis,guiding therapy,and informing prognosis.Incorporating comprehensive fusion analysis into routine workup may be critical for accurate classification,especially in unusual presentations where reliance on morphology alone risks misdiagnosis.展开更多
目的:探讨隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)诊断中免疫表型和荧光原位杂交(fluorescence in situ hybridization,FISH)检测COL1A1/PDGFB融合基因的应用价值。方法:观察73例DFSP中免疫组织化学标记物vimentin、...目的:探讨隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)诊断中免疫表型和荧光原位杂交(fluorescence in situ hybridization,FISH)检测COL1A1/PDGFB融合基因的应用价值。方法:观察73例DFSP中免疫组织化学标记物vimentin、CD34、CD99、S100、desmin、SMA和FISH检测COL1A1/PDGFB融合基因的表达。选取85例非DFSP作为免疫组织化学的对照组,10例非DFSP作为FISH检测COL1A1/PDGFB融合基因的对照组。结果:vimentin、CD34、CD99、S100、desmin、SMA在73例DFSP中阳性率分别是100%、91.78%、61.64%、0、0、6.85%,在对照组中不同程度表达,其中CD34的表达在鉴别诊断中有意义。COL1A1/PDGFB融合基因在DFSP的阳性率为86.96%(60/69),对照组均阴性。结论:在DFSP的诊断中,COL1A1/PDGFB融合基因是DFSP较为特异性、敏感性的标记,而CD34是DFSP相对理想的标记。展开更多
目的探讨乳腺隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans of the breast,DFSP-B)的临床病理学及分子学特征。方法回顾性分析21例DFSP-B的临床病理学、免疫表型及分子学特征,行HE、免疫组化及分子检测,并复习相关文献。结果21...目的探讨乳腺隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans of the breast,DFSP-B)的临床病理学及分子学特征。方法回顾性分析21例DFSP-B的临床病理学、免疫表型及分子学特征,行HE、免疫组化及分子检测,并复习相关文献。结果21例DFSP-B患者男性6例,女性15例,年龄22~75岁(平均39.76岁,中位年龄36岁)。肿瘤最大径1~15 cm(平均4.7 cm,中位3 cm)。镜下瘤细胞呈席纹状、漩涡状及束状排列,核分裂象2~15个/10 HPF,侵犯脂肪及乳腺组织,符合DFSP-B;其中经典型DFSP-B 15例,经典型伴巨细胞纤维母细胞瘤(giant cell fibroblastoma,GCF)1例,黏液型2例,纤维肉瘤型隆突性皮肤纤维肉瘤(fibrosarcomatous-dermatofibrosarcoma protuberans,FS-DFSP)2例,FS-DFSP伴黏液型1例。免疫表型:CD34(21/21)、H3K27Me3(21/21)、β-catenin(21/21,胞膜)和WT-1(4/8,胞质)均阳性,Ki-67增殖指数为5%~50%。FISH检测DFSP-B中PDGFB基因分离阳性(7/8);3例FS-DFSP中PDGFB基因分离阳性(1/1),COL1A1-PDGFB融合阳性(1/1)。2例行NGS检测,其中1例FS-DFSP检测到CDKN2A基因(p.L16fs)突变及MSH6基因(p.F1088fs)突变;1例经典型伴GCF型检测到MLH1基因(p.R487)突变及TP53基因p.R273H体系突变。结论DFSP-B诊断需结合临床病理、免疫表型及PDGFB基因检测,治疗以手术切除为主,必要时可行放疗及靶向治疗,预后较好。展开更多
文摘Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treatment,which acts by blocking platelet-derived growth factor receptor-beta kinase activity.Apart from this canonical fusion,there is an expanding spectrum of rare fusions,including COL6A3::PDGFD,EMILIN::PDGFD,TNC::PDGFD,etc.,through mole-cular profiling.These atypical rearrangements may be encountered in morpho-logically classic DFSP,unusual anatomic sites,or diagnostically challenging variants such as fibrosarcomatous DFSP.Their recognition is clinically relevant,as they may influence tumor biology,response to targeted therapy,and eligibility for clinical trials.This newly documented DFSP involving the lacrimal sac was initially misdiagnosed as a solitary fibrous tumor,emphasizing the diagnostic pitfalls in anatomically constrained regions and the importance of integrated diagnosis combining histology,immunohistochemistry,and molecular testing.In this editorial commentary,we briefly highlight the ever-growing genomic land-scape of DFSP,report rare fusions and their biological implications,and examine the role of expanded molecular diagnostics in refining diagnosis,guiding therapy,and informing prognosis.Incorporating comprehensive fusion analysis into routine workup may be critical for accurate classification,especially in unusual presentations where reliance on morphology alone risks misdiagnosis.
文摘目的:探讨隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)诊断中免疫表型和荧光原位杂交(fluorescence in situ hybridization,FISH)检测COL1A1/PDGFB融合基因的应用价值。方法:观察73例DFSP中免疫组织化学标记物vimentin、CD34、CD99、S100、desmin、SMA和FISH检测COL1A1/PDGFB融合基因的表达。选取85例非DFSP作为免疫组织化学的对照组,10例非DFSP作为FISH检测COL1A1/PDGFB融合基因的对照组。结果:vimentin、CD34、CD99、S100、desmin、SMA在73例DFSP中阳性率分别是100%、91.78%、61.64%、0、0、6.85%,在对照组中不同程度表达,其中CD34的表达在鉴别诊断中有意义。COL1A1/PDGFB融合基因在DFSP的阳性率为86.96%(60/69),对照组均阴性。结论:在DFSP的诊断中,COL1A1/PDGFB融合基因是DFSP较为特异性、敏感性的标记,而CD34是DFSP相对理想的标记。
