VARIANTS:
nodular, superficial, infiltrative, morpheaform, adenoid, infundibulocytic, clear cell, metatypical
DIFFERENTIAL:
nodular variant: trichoepithelioma - trichoblastoma, nodular hidradenoma, eccrine spiradenoma
superficial variant: actinic keratosis, seborrheic keratosis
infiltrative-morpheaform variants - desmoplastic trichoepithelioma, microcystic adnexal carcinoma
adenoid variant - adenoid cystic carcinoma, malignant mixed tumor of the skin
infundibulocystic variant - trichoepithelioma, reticulated seborrheic keratosis, basaloid follicular hamartoma
clear cell variant - sebaceous adenoma, tricholemmoma, clear cell hidradenoma, clear cell acanthoma, ballon cell nevus, balloon cell melanoma
metatypical variant - squamous cell carcinoma
Cytogenetics
tumoral trisomy 6
LOH
9q21-q31 LOH (93%) (16204023)
- 9q21-q31 uniparental disomy (38%) (16204023)
6q23-q27 LOH (36%) (16204023)
Genic inactivation by somatic mutations
PTCH1 (69%) (16204023)
PTCH2
SMOH
See also
References
Teh MT, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD, Kelsell DP. Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res. 2005 Oct 1;65(19):8597-603. PMID: 16204023
Rubin AI, Chen EH, Ratner D. Basal-cell carcinoma. N Engl J Med. 2005 Nov 24;353(21):2262-9. PMID: 16306523
Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet. 2001 Apr;10(7):757-62. PMID: 11257109