# Deregulation of the platelet-derived growth factor B-chain gene via fusion with COL1A1 in dermatofibrosarcoma protuberans

Source: https://onco.cc/key-papers/paper-simon-col1a1-pdgfb-dfsp-nat-genet-1997/  
OnCo record `paper-simon-col1a1-pdgfb-dfsp-nat-genet-1997` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

This study discovered that dermatofibrosarcoma protuberans is driven by a fusion of the collagen gene COL1A1 to the growth factor gene PDGFB, which explains its response to imatinib and gives the tumour a diagnostic marker.

## Summary

Molecular characterisation of the ring chromosomes and t(17;22) translocation of dermatofibrosarcoma protuberans and giant cell fibroblastoma, identifying fusion of COL1A1 to PDGFB placing PDGFB under collagen promoter control and leading to autocrine PDGF receptor activation.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: Nature Genetics
- Year: 1997
- DOI: 10.1038/ng0197-95
- Authors: Simon MP, Pedeutour F, Sirvent N, et al.
- Findings: COL1A1-PDGFB fusion identified as the driver of dermatofibrosarcoma protuberans and giant cell fibroblastoma.
- What it means: COL1A1-PDGFB fusion testing confirms the diagnosis, and the fusion's dependence on PDGF receptor beta signalling is the rationale for imatinib.
- Caveats: Rare cases carry alternative PDGFD fusions.

## Sources

- Nat Genet 1997: https://doi.org/10.1038/ng0197-95
- PubMed: https://pubmed.ncbi.nlm.nih.gov/8988177/

## Connected records

- cancers: [Dermatofibrosarcoma protuberans](https://onco.cc/cancers/dermatofibrosarcoma-protuberans/)
- journals: [Nature Genetics](https://onco.cc/journals/nature-genetics/)

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