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
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
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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
Citation: 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
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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

Clinical study of molecular markers and COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans

    摘要
  • 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。

     

    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.

     

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