Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.10.2 (focal adhesion kinase)
44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by a recurrent t(9;22)(q22;q12) translocation, resulting in the fusion of the EWS gene in 22q12 and the TEC gene in 9q22. Here we report that a third member of the EWS, TLS/FUS gene family, TAF2N, can replace EWS as a fusion partner to TEC in EMC. Two tumors, one with a novel t(9;17)(q22;q11) variant translocation and one with an apparently normal karyotype, expressed TAF2N-TEC fusion transcripts. In both cases, the chimeric transcripts were shown to contain exon 6 of TAF2N fused to the entire coding region of TEC. This transcript is structurally and functionally very similar to the EWS-TEC fusions. The exchange of the EWS NH2-terminal part with the TAF2N NH2-terminal part in EMC further underscores the oncogenic potential of these protein domains as partners in fusion genes.
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PMID:Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. 1053 74

Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent t(9;22) or t(9;17) translocations resulting in fusions of the NH2-terminal transactivation domains of EWS or TAF2N to the entire TEC protein. We report here an EMC with a novel translocation t(9; 15)(q22;q21) and a third type of TEC-containing fusion gene. The chimeric transcript encodes a protein in which the first 108 amino acids of the NH2-terminus of the basic helix-loop-helix (bHLH) protein TCF12 is linked to the entire TEC protein. The translocation separates the NH2-terminal domain of TCF12 from the bHLH domain as well as from a potential leucine zipper domain located immediately downstream of the breakpoint. These results demonstrate that the NH2-terminal transactivation domains of EWS or TAF2N are not unique in their ability to convert the TEC protein into an oncogenically active fusion protein, and that they may be replaced by a domain from a bHLH protein that presumably endows the fusion protein with similar functions.
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PMID:Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). 1115 74

Extraskeletal myxoid chondrosarcoma (EMCS) is a rare soft tissue sarcoma and usually occurs in deep soft tissues, especially of the proximal extremities and limb girdles. We present an unusual case of the tumor arising in the finger. The diagnosis was confirmed by molecular detection of a characteristic EWS-CHN/TEC fusion gene transcript. Molecular detection of the tumor specific fusion gene could be a valuable aid for the final diagnosis of EMCS, particularly in cases with unusual clinicopathological features.
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PMID:Extraskeletal myxoid chondrosarcoma arising in the finger. 1198 7

Due to their favorable optical and mechanical properties, endodontic posts made of partially stabilized zirconia ceramic (ZrO2-Y2O3) are a promising alternative to those made of metal. Zirconia posts can be combined with various tooth-colored core materials to increase the optical properties of a final esthetic restoration. For stability, a reliable bond between core material and the post should be generated. This in vitro study evaluated the retention of selected core materials to zirconia posts dependent on different surface treatments and bonding procedures. Two types of zirconia posts (CeraPost [CEP], Lemgo, Germany) and CosmoPost [COP], Ivoclar Vivadent, Amherst NY 14228, USA) were employed for the study. Ring-shaped cores were fabricated of either heat-pressed, zirconia-containing glass ceramic (IPS Empress Cosmo [EMC], Ivoclar Vivadent), highly-filled hybrid composite (Tetric Ceram [TEC], Ivoclar Vivadent) or an experimental, high-strength glass ceramic (OHSU-RWTH [EX], Ivoclar Vivadent). The core made of material EX was either directly heat pressed (EXP) or adhesively bonded (EXB) onto the post using a flowable composite. Prior to core application, the post surfaces were preconditioned by alumina abrasion (AA) or tribochemical silicoating and silanation (TCS). Specimens (10 per group) were stored in artificial saliva (pH 5.2) for 150 days. Storage time included 5,000 thermocycles (5/55 degrees C per 30 seconds). Defect analysis was conducted visually using a light microscope and a fiber optic transillumination prior to the testing procedure. The loads required to separate post and core were determined by a push-out test. Following testing, the surfaces of the posts and core materials were evaluated in a scanning electron microscope (SEM). There were no statistically significant differences between the separation loads of groups COP/AA/EMC, COP/TCS/TEC, CEP/AA/EMC and COP/AA/EXB. Group COP/AA/EXP showed significantly higher retention, but also the highest standard deviation and the highest number and diversity of severe defects in the core material prior to testing. Similar defects were detected in the group COP/AA/EXC. In group COP/TCS/TEC, where there were a lower number of minor defects, and in COP/AA/EMC and COP/AA/EMC, no defects were observed. For both post systems tested with the combinations alumina abrasion/zirconia-containing glass-ceramic and tribochemical silicoating and silanation/highly-filled hybrid composite, a reliable retention was achieved. The use of the experimental high-strength glass ceramic as a core material is contraindicated due to a discrepancy in the coefficient of thermal expansion to the zirconia-post.
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PMID:Retention of selected core materials to zirconia posts. 1221 63

Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent chromosome translocations resulting in fusions of the nuclear receptor TEC to various NH(2)-terminal partners. Here we describe the phenotypic, cytogenetic, and molecular genetic characteristics of a series of 10 EMCs. Using spectral karyotyping and fluorescence in situ hybridization, clonal chromosome abnormalities were detected in all but one tumor. A t(9;22)(q22;q12) translocation was found in three cases; a del(22)(q12-13)in one case; and variant translocations, including t(9;17)(q22;q11-12), t(7;9;17)(q32;q22;q11), and t(9;15)(q22;q21), were detected in one case each. Recurrent, secondary abnormalities, including trisomy 1q, 7, 8, 12, and 19, were found in seven tumors. All tumors contained translocation-generated or cryptic gene fusions, including EWS-TEC (five cases, of which one was a novel fusion), TAF2N-TEC (four cases), and TCF12-TEC (one case). cDNA microarray analysis of the gene expression patterns of two EMCs and a myxoid liposarcoma reference tumor revealed a remarkably distinct and uniform expression profile in both EMCs despite the fact that they had different histologies and expressed different fusion transcripts. The most differentially expressed gene in both tumors was CHI3L1, which encodes a secreted glycoprotein (YKL-40) previously implicated in various pathological conditions of extracellular matrix degradation as well as in cancer. Our findings suggests that EMC exhibits a tumor-specific gene expression profile, including overexpression of several cancer-related genes as well as genes implicated in chondrogenesis and neural-neuroendocrine differentiation, thus distinguishing it from other soft tissue sarcomas.
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PMID:Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analyses. 1259 13

Extraskeletal myxoid chondrosarcoma (EMC) is characterized by recurrent chromosomal translocations resulting in fusions of the nuclear receptor gene NOR1 (also known as CHN or TEC) to various N-terminal partners, including EWS and TAF2N (or RBP56). Significant structural homology of EWS or TAF2N to TLS (or FUS) prompted us to investigate a potential novel gene fusion of NOR1 to TLS in EMCs without detectable known NOR1 fusions. In one of the EMCs examined, our reverse-transcription polymerase chain reaction using NOR1 and TLS primers unexpectedly amplified a cDNA sequence derived not from a TLS/NOR1 fusion but from a TFG/NOR1 fusion, a hitherto undescribed fusion type in EMC, probably a result of incidental misannealing by the TLS primer, which has a sequence partially identical to TFG. Encoding a protein with a putative coiled-coil structure, TFG previously was identified by a homology search in the Expressed Sequence Tag Database as having an SPYGQ-rich region similar to the N-terminal parts of EWS and TLS. TFG/NOR1 fusion appears to play an oncogenic role equivalent to those of other NOR1 fusions in EMC.
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PMID:TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. 1518 55

Extraskeletal myxoid chondrosarcoma (EMC) is a soft tissue malignancy characterized by specific chromosomal abnormalities involving the TEC gene. This disease has historically been considered largely indolent both histologically and clinically. Rarer subsets of EMC exist that demonstrate aggressive histopathologic features and clinical behavior, though it remains unclear whether or not aggressive histopathology is predictive of outcome. Herein we present a case of EMC with aggressive histopathologic features that underwent rapid clinical progression despite initial treatment with curative intent. This case provides the context for a discussion of the existing literature regarding treatment, prognosis, pathology, and genetic/molecular features of EMC in general and aggressive EMC specifically.
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PMID:A case of highly aggressive extraskeletal myxoid chondrosarcoma. 2194 86

The t(3;9)(q11-q12;q22) translocation associated with human extraskeletal myxoid chondrosarcomas results in a chimeric molecule in which the N-terminal domain (NTD) of the TFG (TRK-fused gene) is fused to the TEC (Translocated in Extraskeletal Chondrosarcoma) gene. Little is known about the biological function of TFG-TEC. Because the NTDs of TFG-TEC and TEC are structurally different, and the TFG itself is a cytoplasmic protein, the functional consequences of this fusion in extraskeletal myxoid chondrosarcomas were examined. The results showed that the chimeric gene encoded a nuclear protein that bound DNA with the same sequence specificity as the parental TEC protein. Comparison of the transactivation properties of TFG-TEC and TEC indicated that the former has higher transactivation activity for a known target reporter containing TEC-binding sites. Additional reporter assays for TFG (NTD) showed that the TGF (NTD) of TFG-TEC induced a 12-fold increase in the activation of luciferase from a reporter plasmid containing GAL4 binding sites when fused to the DNA-binding domain of GAL4, indicating that the TFG (NTD) of the TFG-TEC protein has intrinsic transcriptional activation properties. Finally, deletion analysis of the functional domains of TFG (NTD) indicated that the PB1 (Phox and Bem1p) and SPYGQ-rich region of TFG (NTD) were capable of activating transcription and that full integrity of TFG (NTD) was necessary for full transactivation. These results suggest that the oncogenic effect of the t(3;9) translocation may be due to the TFG-TEC chimeric protein and that fusion of the TFG (NTD) to the TEC protein produces a gain-of-function chimeric product.
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PMID:The TFG-TEC fusion gene created by the t(3;9) translocation in human extraskeletal myxoid chondrosarcomas encodes a more potent transcriptional activator than TEC. 2258 39

Extraskeletal myxoid chondrosarcoma (EMC) is a relatively uncommon soft tissue sarcoma that typically presents in adults of middle age and affects the proximal thigh and limb girdles. Initially believed to be a low-grade malignancy, long-term patient follow-up has shown a high incidence of local recurrence and metastatic spread. EMC is uniformly resistant to chemotherapy and radiation therapy. These tumors characteristically display fibrous septae with large aggregates of mucin populated by clusters and strands of oval cells exhibiting minimal mitotic activity. A more aggressive cellular subtype has also been defined and exhibits basaloid cells showing the immunohistochemical staining features of neuroendocrine differentiation calling into question their proposed cartilaginous lineage. Most, although not all, examples of EMC possess a unique balanced chromosomal translocation [t(9;22)(q22;q12)] between the EWSR1 and NR4A3 (previously termed TEC) genes. Pediatric and adolescent cases of EMC are rare, as only 15 have been reported and appear to follow a more aggressive clinical course. Reported herein is a case of an EMC arising in the thigh of a 15-year-old female and the first to undergo evaluation of chromosomal translocation.
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PMID:Chromosomal translocation-negative cellular extraskeletal myxoid chondrosarcoma in an adolescent female. 2280 37

An ordered microporous carbon material was prepared by the nanocasting process using the EMC-2 zeolite (EMT structure type) as a hard template. X-ray diffraction (XRD) and transmission electron microscopy (TEM) revealed long-range ordering in the material that resulted from the negative replication of the host template. The carbon porous network replicating the zeolite structure was modeled by overlapped spherical voids with diameters determined from the XRD pattern that displayed up to six distinct peaks. The surface delimiting the 3D interconnected porosity of the solid has a complex morphology. The pore size distribution calculated from the XRD-derived structural model is characterized by a maximum at 1.04 nm related to the long-range-ordered microporous network. Complementary studies by immersion calorimetry revealed that most of the porosity was characterized by a size above 1.5 nm. These porous features were compared to data resulting from classical analysis (DR, DFT, BET, etc.) of the N2 (77 K) and CO2 (low and high pressure, 273 K) physisorption isotherms. The limitations of these approaches are discussed in light of the pore size distribution consistently determined by XRD and immersion calorimetry measurements.
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PMID:Structure and sorption properties of a zeolite-templated carbon with the EMT structure type. 2435 49


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