NUT midline carcinoma
Synonyms: NMC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of <i>NUTM1</i> rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NUT midline carcinoma | NMC |
| fr | Carcinome de la ligne médiane | = en |
| de | NUT-Karzinom | = en |
| es | Carcinoma de la línea media NUT | = en |
| it | Carcinoma della linea mediana NUT | = en |
| nl | NUT-middellijncarcinoom | = en |
| pt | Carcinoma da linha média NUT | |
| pl | Nowotwór linii pośrodkowej NUT | = en |
| cs | NUT karcinom střední čáry | = en |
| uk | Карцинома серединної лінії NUT | = en |
| zh | NUT中线癌 | = en |
| tr | NUT orta hat karsinomu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C80.9 | NTBT | attributed | validated |
| ICD-11 | 2D3Y | NTBT | attributed | validated |
| ICD-11 | XH2855 | E | specific | validated |
| MONDO | 0005563 | E | validated | |
| UMLS | C1707291 | E | validated | |
| MedDRA | 10078295 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98057Rare tumor
rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRD4 | Part of a fusion gene in | Assessed | HGNC:13575 | ENSG00000141867 | 608749 | 19p13.12 | bromodomain containing 4 | 22017582[PMID] |
| NUTM1 | Part of a fusion gene in | Assessed | HGNC:29919 | ENSG00000184507 | 608963 | 15q14 | NUT midline carcinoma family member 1 | 22017582[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 310 cases | Worldwide | Case(s) | Validated | 35957893[PMID] | |
| Point prevalence | <1 / 1 000 000 | 0.0002 / 100 000 | Worldwide | Value and class | Validated | 35957893[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2019-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002664 | Neoplasm | |
| Frequent (79-30%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0012254 | Ewing sarcoma | |
| HP:0001909 | Leukemia | |
| HP:0003006 | Neuroblastoma | |
| HP:0012182 | Oropharyngeal squamous cell carcinoma | |
| HP:0100757 | Pancreatoblastoma | |
| HP:0002860 | Squamous cell carcinoma | |
| Occasional (29-5%) | ||
| HP:0012142 | Pancreatic squamous cell carcinoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22896655[PMID]_22017582[PMID]_23463074[PMID]_12543779[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443167
- This record as JSON: /data/d/443167.json