Clear cell sarcoma of kidney
Synonyms: CCSK
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Clear cell sarcoma of kidney | CCSK |
| fr | Sarcome à cellules claires du rein | CCSK · SRCC · Sarcome rénal à cellules claires |
| de | Klarzellsarkom der Niere | = en |
| es | Sarcoma de células claras del riñón | SCCR |
| it | Sarcoma renale a cellule chiare | |
| nl | Heldercellig sarcoom van nier | = en |
| pt | Sarcoma renal de células claras | |
| pl | Jasnokomórkowy mięsak nerki | = en |
| cs | Světlobuněčný sarkom ledviny | = en |
| uk | Світлоклітинна саркома нирки | = en |
| zh | 肾透明细胞肉瘤 | = en |
| tr | Berrak hücreli böbrek sarkomu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C64 | NTBT | index | validated |
| ICD-11 | 2C90.Y | NTBT | attributed | validated |
| ICD-11 | XH0765 | E | specific | validated |
| MONDO | 0005006 | E | validated | |
| UMLS | C0334488 | E | validated | |
| MedDRA | 10009253 | 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 (3):
- ORPHA:183595Genetic renal tumor
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93619Rare renal tumor
rare renal diseases; rare neoplastic diseases
No children.
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCOR | Disease-causing somatic mutation(s) in | Assessed | HGNC:20893 | ENSG00000183337 | 300485 | Xp11.4 | BCL6 corepressor | 26098867[PMID] |
| IRX2 | Part of a fusion gene in | Assessed | HGNC:14359 | ENSG00000170561 | 606198 | 5p15.33 | iroquois homeobox 2 | 25481751[PMID]_26493387[PMID] |
| NUTM2B | Part of a fusion gene in | Assessed | HGNC:23445 | ENSG00000188199 | 10q22.3 | NUT family member 2B | 22294382[PMID] | |
| NUTM2E | Part of a fusion gene in | Assessed | HGNC:23448 | ENSG00000228570 | 10q22.3 | NUT family member 2E | 22294382[PMID] | |
| TERT | Part of a fusion gene in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 25481751[PMID]_26493387[PMID] |
| YWHAE | Part of a fusion gene in | Assessed | HGNC:12851 | ENSG00000108953 | 605066 | 17p13.3 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 22294382[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457246
- This record as JSON: /data/d/457246.json