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Genes (16)
Species: human : 16 | |
Human | TCF7L1 | 83439 | transcription factor 7-like 1 (T-cell specific, HMG-box) | Tcf-3 expression and beta-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour). | Human | CTNNBIP1 | 56998 | catenin, beta interacting protein 1 | The matrix metalloproteinase-7 gene may be up-regulated by mutated or continuously elevated beta-catenin protein in sporadic desmoid tumors | Human | REEP5 | 7905 | receptor accessory protein 5 | Additionally, genomic DNA from five desmoid tumors was analyzed for loss of heterozygosity at D5S346 close to the APC locus. | Human | WT1 | 7490 | Wilms tumor 1 | WT1 gene is strongly overexpressed in beta-catenin mutant desmoid tumors | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | TGF-beta is a modulator of beta-Catenin levels in tumoral fibroblasts and non-tumoral fibroblasts, despite the oncogenic mutations already present in this gene in tumoral fibroblasts of desmoid tumors different patterns of infiltration in desmoid and fibroma tumours are due to changes in extracellular matrix (ECM) components and cell-ECM interactions which can be ascribed to altered TGFbeta(1) mRNA expression and TGFbeta(1) activity | Human | PDGFRB | 5159 | platelet-derived growth factor receptor, beta polypeptide | CONCLUSIONS: Imatinib mesylate has been reported to have activity against desmoid tumor, most likely because of c-kit and PDGFR receptor tyrosine kinase activity inhibition, and warrants further study. | Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | A proteolytic effect for PAI-1 regulates cell invasiveness in desmoid tumor | Human | NTRK3 | 4916 | neurotrophic tyrosine kinase, receptor, type 3 | However, TrkC immunoreactivity was not restricted to congenital fibrosarcoma and was observed in infantile myofibromatosis, congenital haemangiopericytoma, desmoid tumour, nodular fasciitis, fibrous hamartoma, inflammatory myofibroblastic tumour, and adult fibrosarcoma. | Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | Besides overexpression of MMP7, a known TCF-dependent target gene, a striking upregulation of the expression levels of MMP1, MMP3, MMP11, MMP12 and MMP13 in desmoid tumours, compared to unaffected fibroblasts from the same patients, was found. | Human | MMP12 | 4321 | matrix metallopeptidase 12 (macrophage elastase) | Besides overexpression of MMP7, a known TCF-dependent target gene, a striking upregulation of the expression levels of MMP1, MMP3, MMP11, MMP12 and MMP13 in desmoid tumours, compared to unaffected fibroblasts from the same patients, was found. | Human | MKI67 | 4288 | antigen identified by monoclonal antibody Ki-67 | Analysis of p27 and Ki-67 expression levels might indicate that low proliferating activity of desmoid fibroblasts is connected with another mechanism than the one, in which p27 takes part | Human | L1CAM | 3897 | L1 cell adhesion molecule | Data show that L1 is highly expressed in gastrointestinal stromal tumors but not in leiomyoma and desmoid-type fibromatosis being important differential diagnoses | Human | IGFBP6 | 3489 | insulin-like growth factor binding protein 6 | Identification of IGFBP-6 as a significantly downregulated gene by beta-catenin in desmoid tumors. These findings suggest that IGFBP-6 is directly downregulated by the beta-catenin/TCF complex in desmoid tumors, and imply a role for the IGF axis in the proliferation of desmoid tumors. | Human | CTNNB1 | 1499 | catenin (cadherin-associated protein), beta 1, 88kDa | Alterations in adenomatous polyposis coli/beta-catenin pathway and cyclin D1 dysregulation may contribute to pathogenesis of pleuropulmonary desmoid tumors and solitary fibrous tumors CTNNB1 mutations are highly common in desmoid tumors Sporadic desmoids are usually associated with somatic mutations in codons 41 or 45 of exon 3 of beta-catenin (CTNNB1) Mutation-specific restriction enzyme digestion was used to detect CTNNB1 mutations in desmoid-type fibromatosis there are somatic mutations of APC & beta-catenin genes in desmoid-type fibromatosis & abnormalities in Wnt signal pathway; these abnormalities may result in aberrant cell proliferation & apoptosis, which may be important in tumorigenesis & progression | Human | CCND1 | 595 | cyclin D1 | an activating mutation of the beta-catenin gene affected regulation of the cyclin D1 gene, resulting in the generation of intrathoracic sporadic desmoid tumor | Human | APC | 324 | adenomatous polyposis coli | Most desmoids with two APC hits (87%, 26/30) had one mutated allele with no 20-amino acid repeats (P < 0.001) Predisposed to desmoid tumor Title:Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis|Association:Not Found|Conclusion:Our results indicate that integrating genetic and clinical data is helpful in defining subgroups of patients at higher risk for desmoids, who may benefit from specific prevention programs. The APC mutations associated wiht desmoid tumors and responsible for the behavior of the invasiveness of these neoplasms novel 3' mutation in the APC gene in a family presenting with a desmoid tumour and minimal colonic phenotype Desmoid tumors occurring in the background of familial adenomatous polyposis (FAP) usually contain inactivating germline mutations in the adenomatous polyposis coli (APC) gene there are somatic mutations of APC & beta-catenin genes in desmoid-type fibromatosis & abnormalities in Wnt signal pathway; these abnormalities may result in aberrant cell proliferation & apoptosis, which may be important in tumorigenesis & progression Possibly, the homozygosity of the germ-line mutation of the APC*I1307K gene in this Ashkenazi patient contributed, along with the observed somatic beta-catenin gene mutation, to the development of the desmoid tumor |
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