Squamous cell carcinoma of the oropharynx
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squamous cell carcinoma of the oropharynx | |
| fr | Carcinome épidermoïde de l'oropharynx | Carcinome épidermoïde oropharyngé |
| de | Plattenepithelkarzinom des Oropharynx | |
| es | Carcinoma de células escamosas de la orofaringe | |
| it | Carcinoma a cellule squamose dell'orofaringe | |
| nl | Plaveiselcelcarcinoom van orofarynx | |
| pt | Carcinoma de células escamosas da orofaringe | |
| pl | Rak płaskonabłonkowy gardła środkowego | |
| cs | Dlaždicobuněčný karcinom oropharyngu | |
| uk | Плоскоклітинний рак ротоглотки | |
| zh | 口咽鳞状细胞癌 | |
| tr | Orofarinksin skuamöz hücreli karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275355 | NTBT | validated | |
| ICD-10 | C10.8 | NTBT | attributed | validated |
| ICD-11 | 2B6A.0 | E | specific | validated |
| MONDO | 0044704 | E | validated | |
| UMLS | C0280313 | E | validated | |
| MedDRA | 10031112 | 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:67037Squamous cell carcinoma of head and neck
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 | 3.12 / 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/500478
- This record as JSON: /data/d/500478.json