Genes (14)
Species:
human : 14 | |
| Human | TUBA1C | 84790 | tubulin, alpha 1c | Although tubulin was detected in chondroblastomas (5/6), osteochondromas (2/2), chondrosarcomas (5/6), and myxoid-chondrosarcomas of bone (3/3), tau expression was absent in these tumors. In the present study, 2 extraskeletal myxoid chondrosarcomas (EMCs), 6 chordomas, 6 chondrosarcomas, 3 myxoid chondrosarcomas of bone, 2 osteochondromas, 6 chondroblastomas, and 2 nonneoplastic adult articular cartilages were immunostained with monoclonal antibodies against tau proteins and tubulin. | | Human | TRPS1 | 7227 | trichorhinophalangeal syndrome I | INFERRED, Score=800, UMLKSK CUI: C0029423 | | Human | TGFB2 | 7042 | transforming growth factor, beta 2 | Osteochondroma cases showed moderate-to-intense expressions of TGF-beta2, -beta3, and BMP in the lacuna cells, while LTBP-1 was positive in the lacuna cells and negative in the spindle cells. | | Human | PTH1R | 5745 | parathyroid hormone 1 receptor | INFERRED, Score=800, UMLKSK CUI: C0029423 | | Human | PPYR1 | 5540 | | The expression of the two catalytic subunits of protein phosphatase (PP) type 1 PP1 gamma 1 and PP1 delta was examined in 4 cases of osteochondroma and 4 cases of enchondroma as a benign cartilaginous tumor, and 4 cases of chondrosarcoma as a malignant cartilaginous tumor using immunohistochemical analysis. | | Human | LTBP1 | 4052 | latent transforming growth factor beta binding protein 1 | Osteochondroma cases showed moderate-to-intense expressions of TGF-beta2, -beta3, and BMP in the lacuna cells, while LTBP-1 was positive in the lacuna cells and negative in the spindle cells. To clarify the pathogenesis of chondrolipoma, we examined the expressions and localizations of TGF-beta1, -beta2, -beta3, BMP, and LTBP-1 in our rare case by immunohistochemical staining, and compared them with the staining patterns seen in normal human tracheal cartilage tissue and osteochondroma (controls). | | Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | Role of FGF9 and FGF receptor 3 in osteochondroma formation. | | Human | FGFR3 | 2261 | fibroblast growth factor receptor 3 | The expression of PTHrP, PTHrP-receptor, Bcl-2, FGF2, FGFR1, FGFR3, and p21 is investigated by immunohistochemistry in osteochondromas (n = 24) and peripheral (n = 29) and central (n = 20) chondrosarcomas. | | Human | FGF9 | 2254 | fibroblast growth factor 9 | Role of FGF9 and FGF receptor 3 in osteochondroma formation. | | Human | FGF1 | 2246 | fibroblast growth factor 1 (acidic) | IHh/PTHrP and FGF signaling molecules are mostly absent in osteochondromas. | | Human | EXT3 | 2133 | exostoses (multiple) 3 | The sporadic osteochondroma patient carried a novel missense mutation in exon 11 of EXT2 gene, leading to an amino acid substitution. We have analyzed the EXT1 and EXT2 genes in 9 unrelated EXT families and in a patient with a sporadic osteochondroma, all originating from Italy. To evaluate promoter methylation (which is an epigenetic gene silencing mechanism) of EXT1 and EXT2, we performed methylation-specific polymerase chain reaction (PCR) for 20 chondrosarcoma cases (12 primary, 3 secondary to osteochondroma, 2 secondary to enchondromatosis, 2 extraskeletal ordinary, and 1 clear cell) and in five cell lines. Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary chondrosarcomas typically do not. Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. CONCLUSIONS: These findings: 1) confirm previous observations of 8q24.1 karyotypic anomalies in sporadic osteochondroma, 2) reveal the presence of somatic chromosomal anomalies in hereditary osteochondromata, 3) suggest that similar to hereditary lesions, sporadic osteochondromas also are genetically heterogeneic (involvement of both 8q24.1 and 11p11-12), and 4) support the hypothesis that loss or mutation of EXT1 and EXT2, two putative tumor suppressor genes, may be important in the pathogenesis of sporadic as well as hereditary osteochondromata. In addition, mutation analysis of the EXT1 and EXT2 coding regions was performed using PCR-single-strand conformation polymorphism and sequencing analysis for 12 of the 20 chondrosarcoma cases (8 primary, 1 secondary to enchondromatosis, 1 secondary to osteochondroma, and 2 extraskeletal ordinary) and five cell lines. Mutations in either exostosin 1 (EXT1) or exostosin 2 (EXT2) gene cause the HME syndrome and also some isolated osteochondromas. These advances are reviewed and used as the basis for a revised theory for pathogenesis: A clone of proliferating chondrocytes without functional EXT1 (or EXT2) expression fails to produce heparan sulfate; lack of heparan sulfate at the cell surface disrupts fibroblast growth factor signaling and Indian hedgehog diffusion, leading to focal overproliferation and adjacent bone collar deficiency, respectively; together these effects are proposed to contribute to osteochondroma pathogenesis. | | Human | EXT2 | 2132 | exostosin glycosyltransferase 2 | The sporadic osteochondroma patient carried a novel missense mutation in exon 11 of EXT2 gene, leading to an amino acid substitution. CONCLUSIONS: These findings: 1) confirm previous observations of 8q24.1 karyotypic anomalies in sporadic osteochondroma, 2) reveal the presence of somatic chromosomal anomalies in hereditary osteochondromata, 3) suggest that similar to hereditary lesions, sporadic osteochondromas also are genetically heterogeneic (involvement of both 8q24.1 and 11p11-12), and 4) support the hypothesis that loss or mutation of EXT1 and EXT2, two putative tumor suppressor genes, may be important in the pathogenesis of sporadic as well as hereditary osteochondromata. Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary chondrosarcomas typically do not. Title:An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.|Association:Not Found|Conclusion:Not Found Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. In addition, mutation analysis of the EXT1 and EXT2 coding regions was performed using PCR-single-strand conformation polymorphism and sequencing analysis for 12 of the 20 chondrosarcoma cases (8 primary, 1 secondary to enchondromatosis, 1 secondary to osteochondroma, and 2 extraskeletal ordinary) and five cell lines. To evaluate promoter methylation (which is an epigenetic gene silencing mechanism) of EXT1 and EXT2, we performed methylation-specific polymerase chain reaction (PCR) for 20 chondrosarcoma cases (12 primary, 3 secondary to osteochondroma, 2 secondary to enchondromatosis, 2 extraskeletal ordinary, and 1 clear cell) and in five cell lines. Mutations in either exostosin 1 (EXT1) or exostosin 2 (EXT2) gene cause the HME syndrome and also some isolated osteochondromas. We have analyzed the EXT1 and EXT2 genes in 9 unrelated EXT families and in a patient with a sporadic osteochondroma, all originating from Italy. | | Human | EXT1 | 2131 | exostosin glycosyltransferase 1 | Osteochondroma most frequently arises sporadically and as a solitary lesion, but may also arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (HME) and the contiguous gene-deletion syndrome, Langer-Giedion syndrome (LGS). Title:Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations andexonic deletions account for more than half of the mutations.|Association:Not Found|Conclusion:In patients suspected to be affected by MO, we recommend a quantitative analysis such as MLPA, followed by direct sequence analysis for the screening of the EXT1 and EXT2 genes. EXT1 functions as a classical tumor suppressor gene in the cartilage cap of nonhereditary osteochondromas Title:|Association:Not Found|Conclusion:Not Found | | Human | ETS1 | 2113 | v-ets avian erythroblastosis virus E26 oncogene homolog 1 | None of the osteochondroma cases was immunohistochemically positive for Cycin Dl and Ets-1. In addition, the positive rate of Cyclin Dl, CDK4, E2F-l and Ets-1 proteins was significantly higher, whereas p27 was lower in chondrosarcoma than in osteochondroma of the jaws (P<0.05). |
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