Diffuse-variant tenosynovial giant cell tumor: A rare and aggressive lesion

Rowlands, Caroline G.; Roland, Birgitte; Hwang, W. S.; Sevick, Robert J.

doi:10.1016/0046-8177(94)90154-6

Cited by 27 publications

(13 citation statements)

References 14 publications

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“…First, TGCT and PVNS are neoplasms. Although cytogenetic studies had identified a variety of translocations in TGCT cases (10)(11)(12)(13)(14)(15), other studies using human androgen receptor (HUMARA) assays failed to demonstrate clonality (16). Our finding that the CSF1 gene is translocated in only a small percentage of the mononuclear cells in TGCT and PVNS explains this discrepancy.…”

Section: Resultsmentioning

confidence: 69%

“…TGCT has been analyzed by G-banding, and a breakpoint in the region 1p11-13 has been observed in the majority of cases (10)(11)(12)(13)(14)(15). FISH probe analysis showed that the breakpoints clustered to one region located in 1p13.2 in 18 of 21 cases (12).…”

Section: Resultsmentioning

confidence: 99%

“…They were suggested to be reactive by Jaffe (9) in the initial classification of TGCT and related lesions. There have subsequently been reports of clonal cytogenetic abnormalities, most commonly involving 1p11, in TGCT, supporting a neoplastic origin with activation of a growth-promoting gene through a balanced translocation (10)(11)(12)(13)(14)(15). The finding that the cells of TGCT are polyclonal, by analysis of X-chromosome inactivation (16), and the identification of similar chromosomal translocations in hemorrhagic synovitis or rheumatoid synovitis (11) has cast doubt on the neoplastic nature of TGCT.…”

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confidence: 99%

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

West

Rubin

Miller

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

466

385

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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.pigmented villonodular synovitis ͉ receptor tyrosine kinase ͉ macrophage ͉ COL6A3

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Section: Resultsmentioning

confidence: 69%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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

West

Rubin

Miller

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

466

385

View full text Add to dashboard Cite

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“…Clonal chromosomal aberrations have been detected by cytogenetic analysis in 45 cases of GCTTS/PVNS (32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45). GCTTS/PVNS exhibits mostly simple karyotypes characterized by one or a few chromosomal rearrangements or numerical aberrations.…”

Section: Benign Soft Tissue Tumorsmentioning

confidence: 99%

Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors

Nishio

2012

Oncology Letters

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“…TGCTs are of uncertain origin and are composed of rounded synovial-like cells, multinucleated giant cells, inflammatory cells, siderophages, and xanthoma cells (Enzinger and Weiss, 1995). Cytogenetic studies of TGCTs have previously revealed that 1p11-13 is frequently involved in structural aberrations (Mertens et al, 1993;Dal Cin et al, 1994;Rowlands et al, 1994;Ohjimi et al, 1996;Sciot et al, 1999;Nilsson et al, 2002) and that 2q35-37 is the most common translocation partner of chromosome 1 (Nilsson et al, 2002). These results were confirmed in a study by West et al, (2006) that additionally identified the colony-stimulating factor-1 (CSF1 or M-CSF1) locus at 1p13 as the molecular target of the chromosomal rearrangements in 20 of 23 TGCT cases.…”

Section: Introductionmentioning

confidence: 99%

Molecular identification of COL6A3‐CSF1 fusion transcripts in tenosynovial giant cell tumors

Möller

Mandahl

Mertens

et al. 2007

Genes Chromosomes & Cancer

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Tenosynovial giant cell tumors (TGCTs) are benign lesions of the tendon sheaths that primarily affect the fingers, ankles, or feet. Cytogenetic data have shown that 1p13 is most frequently involved in structural aberrations and that 2q37 is its most common translocation partner. The genes involved in the translocation t(1;2)(p13;q37) were recently identified: the colonystimulating factor-1 (CSF1 or M-CSF1) at 1p13 and the collagen type VI alpha-3 (COL6A3) at 2q37. Based upon the suggestion that a fusion of these genes through the translocation would result in overexpression of CSF1 due to a strong COL6A3 promoter, we performed RT-PCR on six TGCT cases with t(1;2) to search for a putative COL6A3-CSF1 fusion gene. Such fusion transcripts were detected in three cases of which one was an in-frame fusion. In all cases, however, the breakpoints in CSF1 appeared downstream of exon 5, indicating that the amino-terminal part of CSF1, which interacts with its receptor CSF1R, is not encoded by the the chimeric transcripts we identified. The pathogenetic mechanism of these chimeric transcripts is therefore unclear. V V C 2007 Wiley-Liss, Inc.

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Diffuse-variant tenosynovial giant cell tumor: A rare and aggressive lesion

Cited by 27 publications

References 14 publications

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

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

Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors

Molecular identification of COL6A3‐CSF1 fusion transcripts in tenosynovial giant cell tumors

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