NUT Carcinoma - CISMeF

Preferred Label : NUT Carcinoma;

NCIt synonyms : Midline Carcinoma of Children and Young Adults with NUT Rearrangement; Carcinoma with t(15;19)(q13;p13.1) Translocation; Carcinoma with t 15 19 q13 p13 1 Translocation; NUT Midline Carcinoma; Nuclear Protein in Testis Midline Carcinoma; Nuclear Protein in Testis (NUT) Midline Carcinoma; NMC;

NCIt definition : A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.;

Neoplastic status : Malignant;

Details

Origin ID

C45716;

UMLS CUI

C1707291;

Automatic exact mappings (from CISMeF team)
- NUT midline carcinoma [ORDO Disease]
- NUT midline carcinoma [MedDRA Preferred Term]
- Nuclear protein in testis (NUT) associated carcinoma [ICD-11 Extension code]
Currated CISMeF NLP mapping
- NUT midline carcinoma [DO Concept]
- NUT midline carcinoma [Disease (Nov.)]
DO Cross reference
- NUT midline carcinoma [DO Concept]
Disease excludes abnormal cell
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Has cytogenetic abnormalities
- t(15;19)(q13;p13.1) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- NUT midline carcinoma [DO Concept]
- NUT midline carcinoma [Disease (Nov.)]
- NUT midline carcinoma [MedDRA Preferred Term]
- Nuclear protein in testis associated carcinoma (morphologic abnormality) [SNOMED CT concept]
- Nuclear protein in testis carcinoma (disorder) [SNOMED CT concept]
associated_with_malfunction_of_gene_product
- Bromodomain-Containing Protein 4 [NCIt concept]
- NUT Family Member 1 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_associated_gene
- BRD4 Gene [NCIt concept]
- BRD4 wt Allele [NCIt concept]
- NUTM1 Gene [NCIt concept]
- NUTM1 wt Allele [NCIt concept]
disease_has_finding
- Aggressive Clinical Course [NCIt concept]
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Poorly Differentiated Lesion [NCIt concept]
disease_has_molecular_abnormality
- BRD4-NUT Fusion Protein Expression [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Midline Anatomic Structure [NCIt concept]
disease_mapped_to_gene
- BRD4/NUTM1 Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- BRD4/NUTM1 Fusion Gene [NCIt concept]
- ZNF532/NUTM1 Fusion Gene [NCIt concept]

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