BAP1-Inactivated Melanocytoma

Preferred Label : BAP1-Inactivated Melanocytoma;

NCIt synonyms : BAP1-Inactivated Cutaneous Melanocytoma; BAP1-Inactivated Skin Melanocytic Tumor; BAP1-Inactivated Melanocytic Tumor; BAP1-Inactivated Nevus; BAP1-Inactivated Cutaneous Melanocytic Tumor; MBAIT; BAP1-Inactivated Spitzoid Nevus; BAP1-Inactivated Melanocytic Neoplasm; BIM; BAP1-Inactivated Cutaneous Melanocytic Neoplasm; Wiesner Nevus; BAP1-Inactivated Skin Melanocytic Neoplasm; BAP1-Deficient Tumor; BIMT; BAPoma; Melanocytic BAP1-Mutated Atypical Intradermal Tumor;

NCIt definition : A cutaneous melanocytoma caused by the inactivation of BAP1 tumor suppressor gene. It is characterized by the presence of a predominantly intradermal proliferation of large epithelioid melanocytes with a large amount of eosinophilic cytoplasm, and vesicular nuclei with prominent nucleoli. Progression to melanoma is infrequent.;

Neoplastic status : Benign;

NCI Metathesaurus CUI : CL978689;

Details

Origin ID

C165525;

UMLS CUI

C5237244;

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
- Epithelioid Melanocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Darkly Pigmented Melanophages Present [NCIt concept]
disease_has_molecular_abnormality
- BAP1 Gene Mutation [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
- BAP1 Gene [NCIt concept]
may_be_associated_disease_of_disease
- BAP1 Tumor Predisposition Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- BAP1 Gene [NCIt concept]
- BAP1 wt Allele [NCIt concept]

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