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Tenosynovial giant-cell tumor and pigmented villonodular synovitis

ABSTRACT: 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. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Keywords: Logical Set

ORGANISM(S): Homo sapiens

PROVIDER: GSE4166 | GEO | 2006/02/25

SECONDARY ACCESSION(S): PRJNA95083

REPOSITORIES: GEO

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Tenosynovial giant-cell tumor and pigmented villonodular synovitis

Project description: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. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Computed

2006-02-24 | E-GEOD-4166 | biostudies-arrayexpress

Transcription profiling of human enosynovial giant-cell tumor (TGCT) and pigmented villonodular synovitis (PVNS) samples

2006-06-09 | E-SMDB-3598 | biostudies-arrayexpress

Interactions in CSF1-driven Tenosynovial Giant Cell Tumors

Project description:A major component of cells in Tenosynovial Giant Cell Tumor (TGCT) consists of bystander macrophages responding to CSF1 that is overproduced by a small number of neoplastic cells with a chromosomal translocation involving the CSF1 gene. An autocrine loop was postulated where the neoplastic cells are stimulated through CSF1R expressed on their surface. Here we use single cell RNA sequencing to investigate cellular interactions in TGCT.

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Gene expression profiles analyzed using integrating RNA sequencing and microarray reveals increased inflammatory response, proliferation, and osteoclastogenesis in pigmented villonodular synovitis

Project description:Pigmented villonodular synovitis (PVNS) is a rare condition that involves benign proliferation of the synovial tissue and is characterized by severe joint destruction and high recurrence even after surgical resection. However, poor understanding of the pathogenesis limitsitseffective therapy.

2021-07-14 | GSE176133 | GEO

Analysis of microRNA expression profiles in Xp11 renal cell carcinoma compared to normal adjacent tissue.

Project description:Renal cell carcinomas (RCCs) with Xp11 translocation (Xp11 RCC) constitute a distinctive molecular subtype characterized by chromosomal translocations involving the Xp11.2 locus, resulting in gene fusions between the TFE3 transcription factor with a second gene (usually ASPSCR1, PRCC, NONO, or SFPQ). RCCs with Xp11 translocations comprise up to 1-4% of adult cases, frequently displaying papillary architecture with epithelioid clear cells.

2017-04-27 | GSE95384 | GEO

Arthritis_RA_OA_VNS

Project description:Pigmented villonodular synovitis (PVNS) represents a rare group of lesions with morphological features suggesting an inflammatory as well as a neoplastic nature. Rheumatoid arthritis (RA) is characterized by a chronic inflammation of the synovial tissue and a tumor-like proliferation (TLP) of synovial stroma cells. Osteoarthritis (OA) shows modest inflammatory infiltrates and no TLP. All three diseases result in a progressive destruction of affected joints and remain a diagnostic difficulty because of nonspecific symptoms. This study aimed to identify molecular markers and genes correlated with the development of RA, OA, and PVNS using human whole genome cDNA microarrays and tissue samples obtained from knee surgery. Keywords: disease state analysis

2006-06-06 | GSE3698 | GEO

PCT and normal

Project description:A hallmark feature of mature B cell tumors in humans is the occurrence of balanced chromosomal translocations, most often involving immunoglobulin (Ig) genes and a wide range of partner genes. Ig/oncogene translocations also occur in mice. However, they are regularly associated with a specific tumor type only for plasmacytomas (PCT), a neoplasm that features Ig/Myc translocations in over 95% of cases. In addition to the contribution of Myc signaling to mouse B cell lymphomagenesis, to identify any other oncogenic pathway in mouse PCT, expression profiling of mouse PCT was performed. six biological replicates of mouse PCT from IL-6 TG mice vs. five biological replicates of normal spleen.

2010-05-19 | E-GEOD-12157 | biostudies-arrayexpress

PCT and normal

2008-09-30 | GSE12157 | GEO

Integrated Copy Number Analysis of Epstein Barr Virus (EBV)-Positive Diffuse Large B-Cell Lymphoma (DLBCL)

Project description:Copy number analysis was performed on EBV+ DLBCL samples compared with EBV- DLBCL. We analyzed the genomic DNA from 18 cases of EBV+ DLBCL, 21 cases of EBV- DLBCL, and 13 cases of nonneoplastic tonsillar tissues using OncoScan FFPE Express 2.0 (MIP). No technical replication were done.

2014-02-01 | E-MTAB-1971 | biostudies-arrayexpress

Single cell analysis of PVNS synovium from human

Project description:Pseudotime analysis, cytotrace, velocity was used to determine the source of subpopulation. To compare the difference between PVNS and steady state synovium, we conduct collaborated analysis containing both PVNS and OA synovium. Qusage analysis reveal the difference of the subsets between them. We for the first time using single cell analysis delineating PVNS cell atlas and have deepen understanding toward PVNS Presumed function and source of certain subpopulation might be the future target that worth trying. We also locate major subpopulation that is responsible for its unremitting inflammation, angiogenesis and invasiveness.

2023-09-14 | GSE155527 | GEO

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