Papillary renal cell carcinoma
Synonyms: Papillary renal cell adenocarcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Papillary renal cell carcinoma | Papillary renal cell adenocarcinoma |
| fr | Carcinome rénal papillaire | Adénocarcinome rénal papillaire |
| de | Nierenzellkarzinom, papilläres | Papilläres Adenokarzinom der Niere |
| es | Carcinoma papilar de células renales | Adenocarcinoma papilar renal |
| it | Carcinoma papillare delle cellule renali | Adenocarcinoma papillare delle cellule renali |
| nl | Papillair niercelcarcinoom | Papillair nierceladenocarcinoom |
| pt | Carcinoma de células renais papilar | |
| pl | Rak brodawkowaty nerki | = en |
| cs | Papilární renální karcinom | Papilární renální adenokarcinom |
| uk | Папілярна нирковоклітинна карцинома | Папілярна нирковоклітинна аденокарцинома |
| zh | 乳头状肾细胞癌 | 乳头状肾细胞腺癌 |
| tr | Papiller renal hücreli karsinom | Papiller renal hücreli adenokarsinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0017884 | E | validated | |
| UMLS | C1306837 | E | validated | |
| GARD | 9572 | E | validated | |
| MedDRA | 10078493 | 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:217071Renal cell carcinoma
rare renal diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MET | Disease-causing somatic mutation(s) in | Assessed | HGNC:7029 | ENSG00000105976 | 164860 | 7q31.2 | MET proto-oncogene, receptor tyrosine kinase | 26536169[PMID] |
| MITF | Major susceptibility factor in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 22012259[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.14 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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/319298
- This record as JSON: /data/d/319298.json