Squamous cell carcinoma of the oral cavity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squamous cell carcinoma of the oral cavity | |
| fr | Carcinome épidermoïde de la cavité orale | |
| de | Plattenepithelkarzinom der Mundhöhle | |
| es | Carcinoma de células escamosas de la cavidad oral | Carcinoma de células escamosas de la cavidad bucal |
| it | Carcinoma a cellule squamose del cavo orale | |
| nl | Plaveiselcelcarcinoom van mondholte | |
| pt | Carcinoma de células escamosas da cavidade oral | |
| pl | Rak płaskonabłonkowy jamy ustnej | |
| cs | Dlaždicobuněčný karcinom dutiny ústní | |
| uk | Плоскоклітинний рак ротової порожнини | |
| zh | 口腔鳞状细胞癌 | |
| tr | Ağız boşluğunun skuamöz hücreli karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275355 | NTBT | validated | |
| ICD-10 | C06.9 | NTBT | attributed | validated |
| ICD-11 | 2B6E.0 | NTBT | attributed | validated |
| MONDO | 0004958 | E | validated | |
| UMLS | C0585362 | E | validated | |
| MedDRA | 10041857 | 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:502369Squamous cell carcinoma of oral cavity and lip
rare otorhinolaryngological diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:457252Squamous cell carcinoma of the oral tongue moved to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ING1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:6062 | ENSG00000153487 | 601566 | 13q34 | inhibitor of growth family member 1 | 10866301[PMID] |
| PTEN | Disease-causing somatic mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 11801303[PMID] |
| TNFRSF10B | Major susceptibility factor in | Assessed | HGNC:11905 | ENSG00000120889 | 603612 | 8p21.3 | TNF receptor superfamily member 10b | 9721831[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.51 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502363
- This record as JSON: /data/d/502363.json