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隆突性皮肤纤维肉瘤免疫表型和COL1A1/PDGFB融合基因的临床应用研究
引用本文:叶新青①, 邝晓聪②, 韦常宏①, 黄俊琪①, 叶洪涛③. 隆突性皮肤纤维肉瘤免疫表型和COL1A1/PDGFB融合基因的临床应用研究[J]. 中国肿瘤临床, 2015, 42(21): 1042-1046. DOI: 10.3969/j.issn.1000-8179.2015.21.953
作者姓名:叶新青①  邝晓聪②  韦常宏①  黄俊琪①  叶洪涛③
作者单位:作者单位:①广西医科大学附属肿瘤医院病理科(南宁市 530021);②广西医科大学基础医学院病理生理学教研室;③广西玉林市第一人民医院病理科
摘    要: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(fluores cence in situ hybridization,FISH)检测COL 1A 1/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COL 1A 1/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COL 1A 1/PDGFB 融合基因的对照组。结果:vimentin、CD34、CD99、S100、desmin 、SMA 在73例DF?SP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。COL 1A 1/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,COL 1A 1/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。

关 键 词:隆突性皮肤纤维肉瘤  免疫组织化学  FISH  COL 1A 1/PDGFB 融合基因
收稿时间:2015-09-10
修稿时间:2015-10-22

Clinical study of molecular markers and COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans
Xinqing YE1, Xiaocong KUANG2, Changhong WEI1, Junqi HUANG1, Hongtao YE3. Clinical study of molecular markers and COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2015, 42(21): 1042-1046. DOI: 10.3969/j.issn.1000-8179.2015.21.953
Authors:Xinqing YE1  Xiaocong KUANG2  Changhong WEI1  Junqi HUANG1  Hongtao YE3
Affiliation:1Department of Pathology, The Affiliated Tumor Hospital of Guangxi Medical University, Nanning 530021, China.
Abstract:Objective:To investigate the values of immunophenotype and the Collagen type 1 alpha1/Proto-oncogene Proteins c-sis (COL1A1/PDGFB) fusion gene in the diagnosis of dermatofibrosarcoma protuberans (DFSP). Methods:IHC markers and the COL 1A1/PDGFB fusion gene were detected by IHC staining and interphase fluorescence in situ hybridization (FISH) in 73 cases previously diagnosed as DFSP. A total of 85 and 10 non-DFSP cases were also included as controls for IHC staining and FISH, respectively. Results:In the 73 DFSP cases, the positive detection rates for immunohistochemical marker vimentin, CD34, CD 99, S100, desmin and SMA were 100%, 91 .78 %,61 .64 %,0, 0, and 6.85 %, correspondingly. Protein expression levels in these cases varied from the control group, and CD34 ex pression was significantly different among the differential diagnoses. The positive detection rate for the COL1A1/PDGFB fusion gene was 86 .96 % (60 /69 ), whereas the gene expression in the control group was negative. Conclusion: The COL 1A1/PDGFB fusion gene is a highly specific and sensitive marker in the diagnosis of DFSP. CD 34is a suitable marker for DFSP.
Keywords:dermatofibrosarcoma protuberans  immunohistochemistry  FISH  COL1A1/PDGFB fusion gene
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