Mutations in exon 3 of the CTNNB1 gene (β-catenin gene) in cutaneous adnexal tumors

American Journal of Dermatopathology

Volumn 31, Issue 3, 2009, Pages 248-255

  Kazakov, Dmitry V ^a   Sima, Radek ^a   Vanecek, Tomas ^a   Kutzner, Heinz ^b   Palmedo, Gabriele ^b   Kacerovska, Denisa ^a   Grossmann, Petr ^a   Michal, Michal ^c  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Dermatopathologische Gemeinschaftspraxis   (Germany)

^c BIOPTICAL LABORATORY   (Czech Republic)

Author keywords

Beta catenin; Craniopharyngioma; Pilomatrical carcinoma; Proliferating richolemmal tumor; Sebaceous tumors; Trichoblastoma; Trichoepithelioma

Indexed keywords

BETA CATENIN; GLYCOGEN SYNTHASE KINASE 3BETA; CTNNB1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; CRANIOPHARYNGIOMA; CUTANEOUS ADNEXA TUMOR; DNA EXTRACTION; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PILOMATRICAL CARCINOMA; PILOMATRIXOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEBACEOUS CARCINOMA; SKIN TUMOR; TRICHILEMMA TUMOR; TRICHOADENOMA; TRICHOBLASTOMA; TRICHOLEMMA TUMOR; TUMOR DIFFERENTIATION; CELL DIFFERENTIATION; EXON; GENE EXPRESSION REGULATION; GENETICS; HYPOPHYSIS TUMOR; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PATHOLOGY; SWEAT GLAND TUMOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BETA CATENIN; CELL DIFFERENTIATION; CHILD; CHILD, PRESCHOOL; CRANIOPHARYNGIOMA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS, ADNEXAL AND SKIN APPENDAGE; PITUITARY NEOPLASMS; SKIN NEOPLASMS; YOUNG ADULT;

EID: 66149138784     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/DAD.0b013e318198922a     Document Type: Article

References (33)

1. Nollet F, Berx G, Molemans F, et al. Genomic organization of the human beta-catenin gene (CTNNB1). Genomics. 1996;32:413-424.
2. Kraus C, Liehr T, Hulsken J, et al. Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics. 1994;23:272-274.
3. McCrea PD, Turck CW, Gumbiner B. A homolog of the armadillo protein in Drosophila (plakoglobin) associated with E-cadherin. Science. 1991; 254:1359-1361.
4. van Es JH, Barker N, Clevers H. You Wnt some, you lose some: oncogenes in the Wnt signaling pathway. Curr Opin Genet Dev. 2003;13: 28-33.
5. Chan EF, Gat U, McNiff JM, et al. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet. 1999;21: 410-413.
6. Huelsken J, Vogel R, Erdmann B, et al. Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell. 2001;105: 533-545.
7. Kikuchi A. Tumor formation by genetic mutations in the components of the Wnt signaling pathway. Cancer Sci. 2003;94:225-229.
8. Klymkowsky MW. Beta-catenin and its regulatory network. Hum Pathol. 2005;36:225-227.
9. Durand M, Moles JP. Beta-catenin mutations in a common skin cancer: pilomatricoma. Bull Cancer. 1999;86:725-726.
10. Moreno-Bueno G, Gamallo C, Perez-Gallego L, et al. Beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br J Dermatol. 2001;145:576-581.
11. Kajino Y, Yamaguchi A, Hashimoto N, et al. Beta-catenin gene mutation in human hair follicle-related tumors. Pathol Int. 2001;51:543-548.
12. Ha SJ, Kim JS, Seo EJ, et al. Low frequency of beta-catenin gene mutations in pilomatricoma. Acta Derm Venereol. 2002;82:428-431.
13. Lazar AJ, Calonje E, Grayson W, et al. Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol. 2005;32:148-157.
14. Doglioni C, Piccinin S, Demontis S, et al. Alterations of beta-catenin pathway in non-melanoma skin tumors: loss of alpha-ABC nuclear reactivity correlates with the presence of beta-catenin gene mutation. Am J Pathol. 2003;163:2277-2287.
15. Ye J, Nappi O, Swanson PE, et al. Proliferating pilar tumors: a clinicopathologic study of 76 cases with a proposal for definition of benign and malignant variants. Am J Clin Pathol. 2004;122:566-574.
16. Ackerman BA, Reddy VB, Soyer PH. Neoplasms With Follicular Differentiation. New York, NY: Ardor Scribendi Ltd; 2001.
17. Sau P, Lupton GP, Graham JH. Trichogerminoma. Report of 14 cases. J Cutan Pathol. 1992;19:357-365.
18. Ackerman AB, Ball E, Guo Y. Labyrinthine/sinusoidal pattern in sebaceoma. Dermatopathol: Pract Concept. 2002;8:Available at: http://www.derm101. com. Accessed October 18, 2005.
19. Kazakov DV, Kutzner H, Rutten A, et al. Carcinoid-like pattern in sebaceous neoplasms: another distinctive, previously unrecognized pattern in extraocular sebaceous carcinoma and sebaceoma. Am J Dermatopathol. 2005;27:195-203.
20. Michal M, Bisceglia M, Di Mattia A, et al. Gigantic cutaneous horns of the scalp: lesions with a gross similarity to the horns of animals: a report of four cases. Am J Surg Pathol. 2002;26:789-794.
21. Kazakov DV, Belousova IE, Bisceglia M, et al. Apocrine mixed tumor of the skin ("mixed tumor of the folliculosebaceous-apocrine complex"). Spectrum of differentiations and metaplastic changes in the epithelial, myoepithelial, and stromal components based on a histopathologic study of 244 cases. J Am Acad Dermatol. 2007;57:467-483.
22. Haskell HD, Haynes HA, McKee PH, et al. Basal cell carcinoma with matrical differentiation: a case study with analysis of beta-catenin. J Cutan Pathol. 2005;32:245-250.
23. Gat U, DasGupta R, Degenstein L, et al. De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated betacatenin in skin. Cell. 1998;95:605-614.
24. Andl T, Reddy ST, Gaddapara T, et al. WNT signals are required for the initiation of hair follicle development. Dev Cell. 2002;2:643-653.
25. Obara N, Suzuki Y, Takeda M. Gene expression of beta-catenin is up-regulated in inner dental epithelium and enamel knots during molar tooth morphogenesis in the mouse. Cell Tissue Res. 2006;325: 197-201.
26. Seemayer TA, Blundell JS, Wiglesworth FW. Pituitary craniopharyngioma with tooth formation. Cancer. 1972;29:423-430.
27. Rosai J.Rosai and Ackerman's Surgical Pathology. 9th ed. New York: Mosby; 2004.
28. Sekine S, Shibata T, Kokubu A, et al. Craniopharyngiomas of adamantinomatous type harbor beta-catenin gene mutations. Am J Pathol. 2002;161:1997-2001.
29. Sekine S, Sato S, Takata T, et al. Beta-catenin mutations are frequent in calcifying odontogenic cysts, but rare in ameloblastomas. Am J Pathol. 2003;163:1707-1712.
30. Miyake T, Tanaka Y, Kato K, et al. Gene mutation analysis and immunohistochemical study of beta-catenin in odontogenic tumors. Pathol Int. 2006;56:732-737.
31. Hassanein AM, Glanz SM, Kessler HP, et al. Beta-catenin is expressed aberrantly in tumors expressing shadow cells. Pilomatricoma, craniopharyngioma, and calcifying odontogenic cyst. Am J Clin Pathol. 2003;120: 732-736.
32. Buslei R, Nolde M, Hofmann B, et al. Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region. Acta Neuropathol (Berl). 2005;109: 589-597.
33. Takeda H, Lyle S, Lazar AJ, et al. Human sebaceous tumors harbor inactivating mutations in LEF1. Nat Med. 2006;12:395-397.