Previous studies suggested that mutant
beta-catenin gene cells in cutaneous adnexal
tumors with matrical differentiation contribute to their
tumorigenesis. Except for
pilomatricoma and pilomatrical
carcinoma, only a handful of other cutaneous adnexal
tumor types have been studied.
DNA was extracted from 86 lesions including 17 proliferating tricholemmal and trichilemmal
tumors, 15 trichoblastomas, 7 trichoadenomas, 4 pilomatricomas, 1 pilomatrical
carcinoma, 4
basal cell carcinomas (BCCs) with shadow cells, 2 trichofolliculomas, 3 BCCs with sebaceous differentiation, 9 sebaceous
adenomas, 6 sebaceomas, 14 sebaceous
carcinomas (both ocular and extraocular forms), 2 gigantic horns, and 2 apocrine mixed
tumors with shadow cells and subjected to polymerase chain reaction with newly designed primers encompassing
glycogen synthase kinase-3beta phosphorylation sites of the CTNNB1 gene. Also, 3
craniopharyngiomas were studied. Sequenced polymerase chain reaction products for possible
beta-catenin gene mutations showed a total of 8 alterations. These included 5 different point mutations, 3 of them identified in 2 different
tumors: S23N (cribriform trichoblastoma), D32Y (
pilomatricoma and
craniopharyngioma), G34R (pilomatrical
carcinoma and
craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (
craniopharyngioma). This study broadens the list of cutaneous adnexal
tumors harboring CTNNB1 mutations and extends the listing of the mutations occurring in these
neoplasms.