Clear Cell Tumor with Melanocytic Differentiation and ACTB-MITF Translocation

Preferred Label : Clear Cell Tumor with Melanocytic Differentiation and ACTB-MITF Translocation;

NCIt synonyms : Clear Cell Neoplasm with Melanocytic Differentiation and ACTB::MITF Translocation; Clear Cell Neoplasm with Melanocytic Differentiation and ACTB-MITF Translocation; Clear Cell Tumor with Melanocytic Differentiation and ACTB::MITF Translocation;

NCIt definition : A clear cell tumor with melanocytic differentiation characterized by a cytogenetic translocation between ACTB and MITF genes that results in ACTB-MITF gene fusion.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1926965;

Details

Origin ID

C204755;

UMLS CUI

C5909963;

Disease may have findings
- HMB-45-Positive Neoplastic Cells Present [NCIt concept]
- Nuclear Atypia [NCIt concept]
- S-100-Positive Neoplastic Cells Present [NCIt concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
- Skin [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Melanocyte with Clear Cytoplasm [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- MITF Pathway Activated [NCIt concept]
disease_has_molecular_abnormality
- MITF Gene Rearrangement [NCIt concept]
disease_has_normal_cell_origin
- Melanocyte [NCIt concept]
disease_has_normal_tissue_origin
- Skin Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- ACTB/MITF Fusion Gene [NCIt concept]
- ACTIN/MITF Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ACTB/MITF Fusion Gene [NCIt concept]

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