Localized Peripheral Primitive Neuroectodermal Tumor of Bone

Preferred Label : Localized Peripheral Primitive Neuroectodermal Tumor of Bone;

NCIt synonyms : Localized Neuroepithelioma of Bone; Localized PNET of Bone;

NCIt definition : A small round cell tumor with neural differentiation that is confined to a specific area of the bone and has not spread to other anatomic sites.;

Neoplastic status : Malignant;

Details

Origin ID

C27353;

UMLS CUI

C0855007;

Automatic exact mappings (from CISMeF team)
- PNET of bone localised [MedDRA LLT]
Currated CISMeF NLP mapping
- PNET of bone localized [MedDRA LLT]
Disease excludes normal cell origin
- Bone Marrow Stem Cell [NCIt concept]
Disease may have findings
- Fever [NCIt concept]
- Hemorrhagic Change [NCIt concept]
- Homer Wright Rosette Formation [NCIt concept]
- Necrotic Change [NCIt concept]
- Pain [NCIt concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Has cytogenetic abnormalities
- EWSR1 Gene Rearrangement [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- PNET of bone localised [MedDRA LLT]
- PNET of bone localized [MedDRA LLT]
- Peripheral neuroepithelioma of bone localised [MedDRA LLT]
- Peripheral neuroepithelioma of bone localized [MedDRA LLT]
disease_excludes_cytogenetic_abnormality
- CIC Gene Rearrangement [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Locally Recurrent Disease [NCIt concept]
- Metastatic Lesion [NCIt concept]
disease_excludes_molecular_abnormality
- EWSR1-NFATC2 Fusion Protein Expression [NCIt concept]
- EWSR1-PATZ1 Fusion Protein Expression [NCIt concept]
- FUS-NFATC2 Fusion Protein Expression [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
- Primitive Round to Oval Cell [NCIt concept]
disease_has_finding
- Localized Disease [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Neuroectodermal Differentiation [NCIt concept]
- Primary Lesion [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
- Neuroectodermal Cell [NCIt concept]
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neural Crest [NCIt concept]
- Neuroectoderm [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- EWSR1 Gene [NCIt concept]
- EWSR1/ERG Fusion Gene [NCIt concept]
- EWSR1/ETV1 Fusion Gene [NCIt concept]
- EWSR1/ETV4 Fusion Gene [NCIt concept]
- EWSR1/FEV Fusion Gene [NCIt concept]
- EWSR1/FLI1 Fusion Gene [NCIt concept]
- FUS/ERG Fusion Gene [NCIt concept]
disease_may_have_abnormal_cell
- Malignant Small Round Cell [NCIt concept]
disease_may_have_associated_disease
- Anemia [NCIt concept]
disease_may_have_cytogenetic_abnormality
- inv(22q12) [NCIt concept]
- t(11;22)(q24;q12) [NCIt concept]
- t(16;21)(p11;q22) [NCIt concept]
- t(17;22)(q21;q12) [NCIt concept]
- t(1;22)(p36.1;q12) [NCIt concept]
- t(21;22)(q22;q12) [NCIt concept]
- t(2;22)(q33;q12) [NCIt concept]
- t(7;22)(p22;q12) [NCIt concept]
disease_may_have_molecular_abnormality
- EWSR1-ERG Fusion Protein Expression [NCIt concept]
- EWSR1-ETV1 Fusion Protein Expression [NCIt concept]
- EWSR1-ETV4 Fusion Protein Expression [NCIt concept]
- EWSR1-FEV Fusion Protein Expression [NCIt concept]
- EWSR1-FLI1 Fusion Protein Expression [NCIt concept]
- FUS-ERG Fusion Protein Expression [NCIt concept]

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