MITF Pathway-Activated Melanocytic Tumor

Preferred Label : MITF Pathway-Activated Melanocytic Tumor;

NCIt synonyms : MITF Pathway-Activated Melanocytic Neoplasm;

NCIt definition : A cutaneous neoplasm associated with MITF gene rearrangement and either ACTIN-MITF translocation or MITF-CREM translocation. It is composed of large cells with clear cytoplasm that exhibit melanocytic differentiation and proliferate in the dermis. It presents as a single non-pigmented cutaneous nodule.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1926980;

Details

Origin ID

C204739;

UMLS CUI

C5909953;

Disease may have findings
- HMB-45-Positive Neoplastic Cells Present [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]

Keyword's position in hierarchy(ies) :

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