TFEB-Rearranged Renal Cell Carcinoma

Preferred Label : TFEB-Rearranged Renal Cell Carcinoma;

NCIt synonyms : Renal Neoplasm with t 6 11 p21 q12; t(6;11);(p21;q12) Renal Cell Carcinoma; t(6;11) Renal Cell Carcinoma; Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB; Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB; TFEB-Altered Renal Cell Carcinoma;

NCIt definition : A rare renal cell carcinoma affecting young patients. It is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.;

Neoplastic status : Malignant;

Details

Origin ID

C37210;

UMLS CUI

C4745249;

Disease excludes abnormal cell
- Malignant Squamous Cell [NCIt concept]
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
Disease may have findings
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Kidney and Ureter [NCIt concept]
- Urinary System [NCIt concept]
Has cytogenetic abnormalities
- MiT Family Translocation [NCIt concept]
- t(6;11)(p21;q12) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- TFEB Protein Overexpression [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
- Renal Tubular Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Renal Tubule Epithelium [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Renal Tubule [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- MALAT1/TFEB Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- MALAT1/TFEB Fusion Gene [NCIt concept]

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