[Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues].
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.


CONCLUSIONS
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.
Yang
Jiang-hua
JH
Department of Pathology, School of Medicine, Shihezi University, Shihezi 832002, China.
Hu
Wen-hao
WH
Li
Feng
F
Lu
Tian-cai
TC
Li
Hong-an
HA
Chang
Bin
B
Zhang
Xue-bao
XB
Zhou
Xiao-ming
XM
Dang
Hong-wei
HW
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D024042:Collagen Type I / Q000235:genetics*; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005260:Female; D020571:Genes, sis; D006801:Humans; D008297:Male; D008875:Middle Aged; D016612:Paraffin Embedding; D012333:RNA, Messenger / Q000032:analysis; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012878:Skin Neoplasms / Q000235:genetics*
D024042:Collagen Type I; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins