Squamous cell carcinoma of the lip
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squamous cell carcinoma of the lip | |
| fr | Carcinome épidermoïde de la lèvre | |
| de | Plattenepithelkarzinom der Lippe | |
| es | Carcinoma de células escamosas del labio | |
| it | Carcinoma a cellule squamose del labbro | |
| nl | Plaveiselcelcarcinoom van lip | |
| pt | Carcinoma de células escamosas do lábio | |
| pl | Rak płaskonabłonkowy wargi | |
| cs | Dlaždicobuněčný karcinom rtu | |
| uk | Плоскоклітинний рак губи | |
| zh | 唇部鳞状细胞癌 | |
| tr | Dudağın skuamöz hücreli karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275355 | NTBT | validated | |
| ICD-10 | C00.1 | NTBT | attributed | validated |
| ICD-11 | 2B60.1 | E | specific | validated |
| MONDO | 0021427 | E | validated | |
| UMLS | C0280302 | E | validated | |
| MedDRA | 10064055 | 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.
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 | 1.02 / 100 000 | Worldwide | 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/502366
- This record as JSON: /data/d/502366.json