Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues / 中华病理学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the COL1A1/PDGFB fusion transcripts and discuss its clinicopathological significance in dermatofibroscoma protuberans.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>