The understanding of the PDGFB dependent oncogenic mechanism of dermatofibrosarcoma protuberans through the finding of the novel fused gene

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860960
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: University of the Ryukyus
• Principal Investigator: MATORI Shigetaka 琉球大学, 医学(系)研究科(研究院), 助教 (80529470)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 隆起性皮膚線維肉腫 / 融合遺伝子 / 血小板由来増殖因子 / 間葉系腫瘍

Outline of Final Research Achievements

To understand the oncogenic mechanism of dermatofibrosarcoma protuberans (DFSP), we explored the presence of mutations of PDGF and PDGF receptor genes.
As the mutation of PDGF ligand, COL1A1-PDGFB fusion gene was present in almost all DFSP cases examined. COL1A2-PDGFB gene fusion, those we had found previously, was uncovered in only one case. The mutation of PDGF receptor was not present in all cases so far as we examined them by the immune-histological analysis. In addition, we confirmed the expression of PDGF-B proteins in almost all DFSP cases immune-histochemically. Thus, the detection of PDGF-B protein can be very useful tool to differentiate DFSP from other mesenchymal tumor. PDGFB should promote the oncogenic proliferation of DFSP cells through the autocrine or paracrine stimulation. Our data concerning about PDGFB expression, in addition to our previous discovery of a novel PDGF fusion gene, strongly supports the concept that DFSP is a PDGFB-dependent tumor.

Free Research Field

皮膚外科、皮膚腫瘍学