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[Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase
Jiang-hua Yang1, Wen-hao Hu, Feng Li
1Department of Pathology, School of Medicine, Shihezi University, Shihezi 832002, China.
Objective:
To detect the COL1A1/PDGFB fusion transcripts and discuss its clinicopathological significance in dermatofibroscoma protuberans.
Methods:
Formalin fixed, paraffin-embedded tumor specimens from 12 patients with DFSP were reviewed by light microscope and the expression of COL1A1/PDGFB mRNA resulting from the reciprocal translocation t(17;22) (q22;q13.1) was detected by one-step revers transcriptase-polymerase chain reaction. The following tumor specimens were included as controls: 2 fibrosarcoma, 2 malignant fibrous histocytoma, 3 leiomyosarcoma, 1 dermarofibroma and 1 nerve shealth tumor.
Results:
The COL1A1/PDGFB fusion transcripts were detected in 8 (67%) of 12 samples from patients with DFSP. Nucleotide sequence analysis using the PCR products confirmed that different regions of the COL1A1 gene, respectively, were fused with of PDGFB gene. No COL1A1/PDGFB fusion transcripts were detected in the control tumors.
Conclusion:
Detection of specific COL1A1/PDGFB fusion transcripts in DFSP will help to diagnose the nature of DFSP and research the mechanism of its molecular histogenesis.