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Large congenital melanocytic nevus

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Name:
Large congenital melanocytic nevus
Description:
A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
ORPHAcode:
626
Synonyms:
Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN
XREF(s):
Orphanet
OMIM
MedDRA
ICD-10
Analyte(s):
MC1R
NRAS
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • epidermal nevus syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    H3-3A 0.00 0 Only hotspots in the gene
    H3C2 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene