A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells

Robert B. West, Brian P. Rubin, Melinda A. Miller, Subbaya Subramanian, Gulsah Kaygusuz, Kelli Montgomery, Shirley Zhu, Robert J. Marinelli, Alessandro De Luca, Erinn Downs-Kelly, John R. Goldblum, Christopher Corless, Patrick O. Brown, C. Blake Gilks, Torsten O. Nielsen, David Huntsman, Matt Van De Rijn

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240 Scopus citations


Tenosynovial giant-cell tumor (TGCT) and pigmented villonodular synovitis (PVNS) are related conditions with features of both reactive inflammatory disorders and clonal neoplastic proliferations. Chromosomal translocations involving chromosome 1p13 have been reported in both TGCT and PVNS. We confirm that translocations involving 1p13 are present in a majority of cases of TGCT and PVNS and show that CSF1 is the gene at the chromosome 1p13 breakpoint. In some cases of both TGCT and PVNS, CSF1 is fused to COL6A3 (2q35). The CSF1 translocations result in overexpression of CSF1. In cases of TGCT and PVNS carrying this translocation, it is present in a minority of the intratumoral cells, leading to CSF1 expression only in these cells, whereas the majority of cells express CSF1R but not CSF1, suggesting a tumor-landscaping effect with aberrant CSF1 expression in the neoplastic cells, leading to the abnormal accumulation of nonneoplastic cells that form a tumorous mass.

Original languageEnglish (US)
Pages (from-to)690-695
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number3
Publication statusPublished - Jan 17 2006



  • COL6A3
  • Macrophage
  • Pigmented villonodular synovitis
  • Receptor tyrosine kinase

ASJC Scopus subject areas

  • Genetics
  • General

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