Squamous cell carcinoma of the hypopharynx
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squamous cell carcinoma of the hypopharynx | |
| fr | Carcinome épidermoïde de l'hypopharynx | Carcinome épidermoïde hypopharyngé |
| de | Plattenepithelkarzinom des Hypopharynx | Hypopharynxkarzinom, squamöses |
| es | Carcinoma de células escamosas de la hipofaringe | |
| it | Carcinoma a cellule squamose dell'ipofaringe | |
| nl | Plaveiselcelcarcinoom van hypofarynx | |
| pt | Carcinoma de células escamosas da hipofaringe | |
| pl | Rak płaskonabłonkowy gardła dolnego | |
| cs | Dlaždicobuněčný (spinocelulární) karcinom hypofaryngu | |
| uk | Плоскоклітинний рак гортані | |
| zh | 下咽鳞状细胞癌 | |
| tr | Hipofarenksin skuamöz hücreli karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275355 | NTBT | validated | |
| ICD-10 | C12 | BTNT | attributed | validated |
| ICD-10 | C13.0 | BTNT | attributed | validated |
| ICD-10 | C13.2 | BTNT | attributed | validated |
| ICD-10 | C13.8 | BTNT | attributed | validated |
| ICD-11 | 2B6D.0 | E | specific | validated |
| MONDO | 0044638 | E | validated | |
| UMLS | C0280321 | E | validated | |
| MedDRA | 10041849 | 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 | 1.27 / 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/494547
- This record as JSON: /data/d/494547.json