MiT family translocation renal cell carcinoma
Synonyms: Carcinoma associated with MITF/TFE translocation · Translocation renal cell carcinoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MiT family translocation renal cell carcinoma | Carcinoma associated with MITF/TFE translocation · Translocation renal cell carcinoma |
| fr | Carcinome rénal associé à une translocation de la famille MiT | Carcinome rénal associé à une translocation MITF/TFE |
| de | Translokationsassoziiertes Nierenzellkarzinom der MiT-Familie | Karzinom mit Translokation · Karzinom mit assoziierter MITF/TFE-Translokation |
| es | Carcinoma de células renales con translocación de la familia MiT | Carcinoma asociado a la translocación MITF/TFE · Carcinoma de células renales con translocación |
| it | Carcinoma a cellule renali con traslocazione della famiglia MiT | |
| nl | Niercelcarcinoom met translocatie in MiT-familie | Carcinoom geassocieerd met MITF/TFE-translocatie · Niercelcarcinoom met translocatie |
| pt | Carcinoma de translocação de células renais | |
| pl | Rodzinny rak nerkowokomórkowy związany z translokacją MiT | Rak związany z translokacją MITF/TFE |
| cs | Translokační karcinom ledviny | Karcinom asociovaný s MITF/TFE translokací · Translokační karcinom |
| uk | Транслокаційна нирковоклітинна карцинома родини MiT | Карцинома, асоційована з транслокацією MITF/TFE · Транслокаційна нирковоклітинна карцинома |
| zh | MiT家族易位性肾细胞癌 | MITF/TFE易位相关癌 |
| tr | MiT ailesi translokasyon renal hücreli karsinom | Translokasyon böbrek hücreli karsinom · MITF / TFE translokasyonu ile ilişkili karsinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300854 | BTNT | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | 2C90.0 | NTBT | attributed | validated |
| MONDO | 0017886 | E | validated | |
| UMLS | C4518356 | 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
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASPSCR1 | Part of a fusion gene in | Assessed | HGNC:13825 | ENSG00000169696 | 606236 | 17q25.3 | ASPSCR1 tether for SLC2A4, UBX domain containing | 15992428[PMID]_22207547[PMID]_20073616[PMID] |
| CLTC | Part of a fusion gene in | Assessed | HGNC:2092 | ENSG00000141367 | 118955 | 17q23.1 | clathrin heavy chain | 12917640[PMID]_20073616[PMID] |
| NONO | Part of a fusion gene in | Assessed | HGNC:7871 | ENSG00000147140 | 300084 | Xq13.1 | non-POU domain containing octamer binding | 9393982[PMID]_20073616[PMID] |
| PRCC | Part of a fusion gene in | Assessed | HGNC:9343 | ENSG00000143294 | 179755 | 1q23.1 | proline rich mitotic checkpoint control factor | 8872474[PMID]_22207547[PMID]_20073616[PMID] |
| SFPQ | Part of a fusion gene in | Assessed | HGNC:10774 | ENSG00000116560 | 605199 | 1p34.3 | splicing factor proline and glutamine rich | 9393982[PMID]_20073616[PMID] |
| TFE3 | Part of a fusion gene in | Assessed | HGNC:11752 | ENSG00000068323 | 314310 | Xp11.23 | transcription factor binding to IGHM enhancer 3 | 23426439[PMID]_22207547[PMID] |
| TFEB | Part of a fusion gene in | Assessed | HGNC:11753 | ENSG00000112561 | 600744 | 6p21.1 | transcription factor EB | 12837690[PMID]_23426439[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/319308
- This record as JSON: /data/d/319308.json