title: Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors.
abstract: 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.
authors.affiliation: Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Pilsen, Czech Republic. kazakov@medima.cz
authors.forename: Dmitry V
authors.initials: DV
authors.lastname: Kazakov
authors.forename: Radek
authors.initials: R
authors.lastname: Sima
authors.forename: Tomas
authors.initials: T
authors.lastname: Vanecek
authors.forename: Heinz
authors.initials: H
authors.lastname: Kutzner
authors.forename: Gabriele
authors.initials: G
authors.lastname: Palmedo
authors.forename: Denisa
authors.initials: D
authors.lastname: Kacerovska
authors.forename: Petr
authors.initials: P
authors.lastname: Grossmann
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002454:Cell Differentiation; D002648:Child; D002675:Child, Preschool; D003397:Craniopharyngioma / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018294:Neoplasms, Adnexal and Skin Appendage / Q000235:genetics* / Q000473:pathology; D010911:Pituitary Neoplasms / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D055815:Young Adult; D051176:beta Catenin / Q000235:genetics*
chemical_list: C495270:CTNNB1 protein, human; D051176:beta Catenin