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

• DOI: 10.1073/pnas.0507321103
• Publication Date: 2006-01-07T01:49:23Z
• Authors: 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 L. Co...; Patrick O. Brown; C. Blake Gilks; Torsten O. Nielsen; David Huntsman; Matt van de Rijn
• Keywords: Pigmented Villonodular Synovitis; Giant Cell Tumors

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