Renal Cell Carcinoma Associated with inv(X)(p11;q12)

Preferred Label : Renal Cell Carcinoma Associated with inv(X)(p11;q12);

NCIt synonyms : Renal Cell Carcinoma with inv X p11 q12;

NCIt definition : A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the inv(X)(p11;q12) resulting in fusion of the NONO (p54nrb) and TFE3 genes.;

Neoplastic status : Malignant;

Details

Origin ID

C39802;

UMLS CUI

C1514836;

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]
- Papillary Growth Pattern [NCIt concept]
- Psammoma Body Formation [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]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- NCIt Neoplasm Core Terminology [NCIt concept]
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]
- Xp11.2 Translocations/TFE3 Gene Fusions Present [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
- NONO/TFE3 Fusion Gene [NCIt concept]
- TFE3 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- NONO/TFE3 Fusion Gene [NCIt concept]

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