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Details
Link-It Detail - Disease - Low Grade Fibromyxoid Sarcoma
Debug Stats
  • ### Total Build Time: 79 ms 25.914 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 698 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=1 ms Completed: 1 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 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=51 ms Completed: 51 ms rowSize= 15.496 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 8.155 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Low Grade Fibromyxoid Sarcoma C1275282
Definition (1)
An indolent, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A consistent, balanced t(7;16)(q32-34;p11) translocation has been identified, associated with the presence of FUS-CREB3L2 fusion protein. Most recent evidence suggests that rare cases may express the FUS-CREB3L1 fusion protein.
Relationships (31)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 2
diso_​to_​diso : 16


Relationships:
gene_​product_​malfunction_​associated_​with_​disease : 2
is_​abnormal_​cell_​of_​disease : 6
is_​cytogenetic_​abnormality_​of_​disease : 2
is_​finding_​of_​disease : 4
is_​normal_​cell_​origin_​of_​disease : 2
is_​normal_​tissue_​origin_​of_​disease : 2
is_​not_​finding_​of_​disease : 4
is_​not_​normal_​cell_​origin_​of_​disease : 2
is_​not_​normal_​tissue_​origin_​of_​disease : 1
isa : 2
may_​be_​finding_​of_​disease : 2
may_​be_​molecular_​abnormality_​of_​disease : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_abnormal_cell_of_diseaseimg Cancer Cell C0334227
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Cell of connective tissue C0009781
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_not_normal_cell_origin_of_diseaseimg Epithelial Cells C0014597
DISO_to_ANATis_not_normal_tissue_origin_of_diseaseimg Epithelial Tissue C0014609
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Fibroblasts C0016030
DISO_to_ANATis_abnormal_cell_of_diseaseimg Malignant Fibroblast C1708876
DISO_to_ANATis_abnormal_cell_of_diseaseimg Malignant Spindle-Shaped Fibroblast C1708911
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Connective and Soft Tissue Cell C1513942
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Fibroblast C1709175
DISO_to_ANATis_not_normal_cell_origin_of_diseaseimg Nerve Cell, Neuroepithelial Cell, and Supporting Cell of the Nervous System C1518293
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg soft tissue C0225317
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Cyclic AMP-Responsive Element-Binding Protein 3-Like Protein 1 C2987176
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Cyclic AMP-Responsive Element-Binding Protein 3-Like Protein 2 C2987178
DISO_to_DISOis_cytogenetic_abnormality_of_diseaseimg Balanced Chromosomal Aberration/Rearrangement C1511041
DISO_to_DISOisaimg Classical Low Grade Fibromyxoid Sarcoma C1707402
DISO_to_DISOmay_be_molecular_abnormality_of_diseaseimg FUS-CREB3L1 Fusion Protein Expression C1708028
DISO_to_DISOmay_be_molecular_abnormality_of_diseaseimg FUS-CREB3L2 Fusion Protein Expression C1708029
DISO_to_DISOmay_be_finding_of_diseaseimg Favorable Clinical Outcome C1333602
DISO_to_DISOis_finding_of_diseaseimg Fibrotic Stroma Formation C1333615
DISO_to_DISOis_not_finding_of_diseaseimg Indolent Clinical Course C1334168
DISO_to_DISOis_not_finding_of_diseaseimg Intermediate Filaments Present C1708535
DISO_to_DISOis_not_finding_of_diseaseimg Intracytoplasmic Eosinophilic Inclusion C1711292
DISO_to_DISOisaimg Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes C1708749
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanCREB3L190993cAMP responsive element binding protein 3-like 1
img NCI, Score=801, Pubmed Id: 15640831, UMLKSK CUI: C1275282
img GENERIF, Score=1000, Pubmed Id: 17721195, UMLKSK CUI: C1275282
HumanCREB3L264764cAMP responsive element binding protein 3-like 2
img NCI, Score=801, Pubmed Id: 12915480, UMLKSK CUI: C1275282
img NCI, Score=801, Pubmed Id: 12915480, UMLKSK CUI: C1275282
HumanCLDN19076claudin 1
img NCI, Score=801, Pubmed Id: 12459629, UMLKSK CUI: C1275282
HumanFUS2521fused in sarcoma
img NCI, Score=801, Pubmed Id: 15139001, UMLKSK CUI: C1275282
img NCI, Score=801, Pubmed Id: 15640831, UMLKSK CUI: C1275282
img NCI, Score=801, Pubmed Id: 12915480, UMLKSK CUI: C1275282
img NCI, Score=801, Pubmed Id: 12915480, UMLKSK CUI: C1275282
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1275282Low Grade Fibromyxoid Sarcoma0self