Debug Stats | ### Total Build Time: 41 ms 40.154 KB CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 368 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 646 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytesCONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 14.909 KBCONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 23.016 KBCONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.169 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
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Relationships (33)
Relation Types: diso_to_anat : 7 diso_to_diso : 26
Relationships: alias_of : 1 is_abnormal_cell_of_disease : 3 is_associated_anatomic_site_of : 1 is_finding_of_disease : 5 is_normal_tissue_origin_of_disease : 1 is_not_finding_of_disease : 3 is_not_normal_cell_origin_of_disease : 1 is_not_normal_tissue_origin_of_disease : 1 isa : 5 may_be_cytogenetic_abnormality_of_disease : 4 may_be_finding_of_disease : 4 may_be_molecular_abnormality_of_disease : 4 | |
DISO_to_ANAT | | is_abnormal_cell_of_disease |
Cancer Cell C0334227 | DISO_to_ANAT | | is_associated_anatomic_site_of |
Connective and Soft Tissue C1516798 | DISO_to_ANAT | | is_not_normal_cell_origin_of_disease |
Epithelial Cells C0014597 | DISO_to_ANAT | | is_not_normal_tissue_origin_of_disease |
Epithelial Tissue C0014609 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Malignant Cell with Eosinophilic Cytoplasm C1708862 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Neoplastic Cell C0597032 | DISO_to_ANAT | | is_normal_tissue_origin_of_disease |
soft tissue C0225317 | DISO_to_DISO | | isa |
Adult Extraosseous Myxoid Chondrosarcoma C1706731 | DISO_to_DISO | | isa |
Conventional Extraskeletal Myxoid Chondrosarcoma C1337010 | DISO_to_DISO | | may_be_finding_of_disease |
Cord-Like Pattern C1707514 | DISO_to_DISO | | may_be_finding_of_disease |
Cribriform Pattern C1333163 | DISO_to_DISO | | may_be_finding_of_disease |
Cystic Change C1511605 | DISO_to_DISO | | may_be_molecular_abnormality_of_disease |
EWS-CHN Fusion Protein Expression C1512153 | DISO_to_DISO | | is_finding_of_disease |
Extraosseous Lesion C1880645 | DISO_to_DISO | | alias_of |
Extraskeletal Myxoid Chondrosarcoma C1275278 | DISO_to_DISO | | isa |
Extraskeletal Myxoid Chondrosarcoma, Metastatic C1708996 | DISO_to_DISO | | isa |
Extraskeletal Myxoid Chondrosarcoma, Recurrent C1709871 | DISO_to_DISO | | is_not_finding_of_disease |
Indolent Clinical Course C1334168 | DISO_to_DISO | | is_not_finding_of_disease |
Intermediate Filaments Present C1708535 | DISO_to_DISO | | isa |
Intracranial Extraskeletal Myxoid Chondrosarcoma C1334238 | DISO_to_DISO | | is_not_finding_of_disease |
Intracytoplasmic Eosinophilic Inclusion C1711292 | DISO_to_DISO | | is_finding_of_disease |
Multinodular Pattern C1334823 | DISO_to_DISO | | is_finding_of_disease |
Myxoid Stroma Formation C1334857 | DISO_to_DISO | | may_be_molecular_abnormality_of_disease |
RBP56-CHN Fusion Protein Expression C1514640 | DISO_to_DISO | | may_be_finding_of_disease |
Spindle Cell Pattern C1710154 |
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Genes (15)
Species: human : 15 | |
Human | TUBA1C | 84790 | tubulin, alpha 1c | Expression of tau proteins and tubulin in extraskeletal myxoid chondrosarcoma, chordoma, and other chondroid tumors. Extraskeletal myxoid chondrosarcoma characterized by microtubular aggregates in the rough endoplasmic reticulum and tubulin immunoreactivity. | Human | TFG | 10342 | TRK-fused gene | TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. TFG was fused to NOR1 is a patient with extraskeletal myxoid chondrosarcoma | Human | TAF15 | 8148 | TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa | Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively. Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. 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). Extraskeletal myxoid chondrosarcoma (EMC) is a soft-tissue neoplasm cytogenetically characterized by the translocations t(9;22)(q22;q11-12) or t(9;17)(q22;q11), generating EWS/CHN or RBP56/CHN fusion genes, respectively. | Human | NR4A3 | 8013 | nuclear receptor subfamily 4, group A, member 3 | Click here to display 16 evidence detail records. | Human | TOC | 7149 | tylosis with oesophageal cancer | Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. 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). | Human | TCF12 | 6938 | transcription factor 12 | In addition, intron 5 in the TCF12 gene corresponds to the region involved in a translocation, t(9;15)(q22;q21), that results in a form of extraskeletal myxoid chondrosarcoma. 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). | Human | SYP | 6855 | synaptophysin | Immunoelectron microscopy showed synaptophysin expression in the extraskeletal myxoid chondrosarcoma but not in the skeletal chondrosarcoma case. | Human | PRPH | 5630 | peripherin | Expression of the intermediate filament peripherin in extraskeletal myxoid chondrosarcoma. | Human | PLAGL1 | 5325 | pleiomorphic adenoma gene-like 1 | Down-regulation of PLAGL1 is associated with extraskeletal myxoid chondrosarcoma tumors | Human | MAP2 | 4133 | microtubule-associated protein 2 | Microtubule-associated protein-2 and class III beta-tubulin are expressed in extraskeletal myxoid chondrosarcoma. | Human | KRT1 | 3848 | keratin 1 | In contrast, chordoma expressed CK 8/18 (15 of 15) and CK 1/10 (14 of 15), whereas extraskeletal myxoid chondrosarcoma consistently lacked CK. | Human | EWSR1 | 2130 | EWS RNA-binding protein 1 | In this study, the vast majority of extraskeletal myxoid chondrosarcomas are associated with a rearrangement at the EWSR1 locus (22q12) | Human | CDH2 | 1000 | cadherin 2, type 1, N-cadherin (neuronal) | CONCLUSIONS: Epithelial-type and neural-type cadherins are found in a variety of noncarcinomatous neoplasms with epithelioid features that involve the soft tissues and can be utilized, in association with other immunomarkers, in distinguishing chordoma (100% NCAD) from extraskeletal myxoid chondrosarcoma and conventional chondrosarcoma of bone (0% NCAD), squamous cell carcinoma (100% ECAD) from epithelioid sarcoma (8% ECAD), and biphasic synovial sarcoma (100% ECAD) from diffuse mesothelioma (20% ECAD). | Human | CDH1 | 999 | cadherin 1, type 1, E-cadherin (epithelial) | CONCLUSIONS: Epithelial-type and neural-type cadherins are found in a variety of noncarcinomatous neoplasms with epithelioid features that involve the soft tissues and can be utilized, in association with other immunomarkers, in distinguishing chordoma (100% NCAD) from extraskeletal myxoid chondrosarcoma and conventional chondrosarcoma of bone (0% NCAD), squamous cell carcinoma (100% ECAD) from epithelioid sarcoma (8% ECAD), and biphasic synovial sarcoma (100% ECAD) from diffuse mesothelioma (20% ECAD). | Human | SERPINA3 | 12 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 | This is the first case, to our knowledge, of extraskeletal myxoid chondrosarcoma arising from the retroperitoneum, and immunohistologic findings suggest that alpha-1-antitrypsin and alpha-1-antichymotrypsin may be available markers in poorly differentiated chondrosarcomas showing a negative reaction for S-100 protein. |
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