Brooke-Spiegler syndrome: Report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes

Journal of Cutaneous Pathology

Volumn 39, Issue 3, 2012, Pages 366-371

  Ponti, Giovanni ^a   Nasti, Sabina ^b   Losi, Lorena ^c   Pastorino, Lorenza ^b   Pollio, Annamaria ^d   Benassi, Luisa ^a   Giudice, Stefania ^a   Bertazzoni, Giorgia ^a   Veratti, Eugenia ^a   Azzoni, Paola ^a   Scarrá, Bianchi ^b,e   Seidenari, Stefania ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Brooke Spiegler syndrome; CYLD; cylindroma; familial trichoepithelioma; PTCH; spiroadenoma; trichoepithelioma

Indexed keywords

CELL SURFACE RECEPTOR; CYLD PROTEIN, HUMAN; PATCHED RECEPTORS; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CASE REPORT; CLINICAL TRIAL; FAMILIAL CANCER; FAMILY; FEMALE; GENETICS; HETEROZYGOSITY LOSS; HUMAN; MALE; MUTATION; PATHOLOGY; SKIN TUMOR;

FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MALE; NEOPLASTIC SYNDROMES, HEREDITARY; RECEPTORS, CELL SURFACE; SKIN NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 84857503861     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/j.1600-0560.2011.01813.x     Document Type: Article

References (34)

1. Brooke H., Epithelioma adenoides cysticum. Br J Dermatol 1892; 4: 269.
2. Spiegler H., Uber endothelioma der haut. Arch Derm Syphilol 1899; 50: 163.
3. Lian F, Cockerell CJ., Cutaneous appendage tumors: familial cylindromatosis and associated tumors update. Adv Dermatol 2005; 21: 217.
4. Alsaad KO, Obaidat NA, Ghazarian D., Skin adnexal neoplasms-part 1: an approach to tumours of the pilosebaceous unit. J Clin Pathol 2007; 60: 129.
5. Antonescu CR, Terzakis JA., Multiple malignant cylindromas of skin in association with basal cell adenocarcinoma with adenoid cystic features of minor salivary gland. J Cutan Pathol 1997; 24: 449.
6. Jungehülsing M, Wagner M, Damm M., Turban tumour with involvement of the parotid gland. J Laryngol Otol 1999; 113: 779.
7. Kazakov DV, Zelger B, Rütten A, et al., Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol 2009; 33: 705.
8. Welch JP, Wells RS, Kerr CB., Ancell- Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity. J Med Genet 1968; 5: 29.
9. Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT., CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet 2006; 70: 246.
10. Oranje AP, Halley D, den Hollander JC, et al., Multiple familial trichoepithelioma and familial cylindroma: one cause! J Eur Acad Dermatol Venereol 2008; 22: 1395.
11. Biggs PJ, Wooster R, Ford D, et al., familial cylindromatosis (turbant tumour syndrome) gene localised to chromosome 16p12-q13: evidence for its role as a tumor suppressor gene. Nat Genet 1995; 11: 441.
12. Takahashi M, Rapley E, Biggs PJ, et al., Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Hum Genet 2000; 106: 58.
13. Bignell GR, Warren W, Seal S, et al., Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 2000; 25: 160.
14. Zhang XJ, Liang YH, He PP, et al., Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 2004; 122: 658.
15. Sima R, Vanecek T, Kacerovska D, et al., Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. Diagn Mol Pathol 2010; 19: 83.
16. Kazakov DV, Vanecek T, Zelger B, et al., Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. Am J Dermatopathol 2011; 33: 251.
17. Vorechovský I, Undén AB, Sandstedt B, Toftgård R, Ståhle-Bäckdahl M., Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. Cancer Res 1997; 57: 4677.
18. Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG., PTCH mutations: distribution and analyses. Hum Mutat 2006; 27: 215.
19. Saggar S, Chernoff KA, Lodha S, et al., CYLD mutations in familial skin appendage tumours. J Med Genet 2008; 45: 298.
20. Blake PW, Toro JR., Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat; 30: 1025.
21. Kazakov DV, Schaller J, Vanecek T, Kacerovska D, Michal M., Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. J Cutan Pathol 2010; 37: 886.
22. van den Ouweland AM, Elfferich P, Lamping R, et al., Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. Fam Cancer 2011; 10: 127.
23. Pastorino L, Cusano R, Nasti S, et al., Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat 2005; 25: 322.
24. Matt D, Xin H, Vortmeyer AO, Zhuang Z, Burg G, Böni R., Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol 2000; 136: 657.
25. Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT., CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet 2006; 70: 246.
26. Harada H, Hashimoto K, Ko MS., The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol 1996; 107: 41.
27. Bowen S, Gill M, Lee DA, et al., Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol 2005; 124: 919.
28. Oiso N, Mizuno N, Fukai K, Nakagawa K, Ishii M., Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. Br J Dermatol 2004; 151: 1084.
29. Zhang G, Huang Y, Yan K, et al., Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. Exp Dermatol 2006; 15: 966.
30. Poblete Gutiérrez P, Eggermann T, Höller D, et al., Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol 2002; 119: 527.
31. Gerretsen AL, Beemer FA, Deenstra W, Hennekam FA, van Vloten WA., Familial cutaneous cylindromas: investigations in five generations of a family. J Am Acad Dermatol 1995; 33: 199.
32. Fenske C, Banerjee P, Holden C, Carter N., Brooke-Spiegler syndrome locus assigned to 16q12-q13. J Invest Dermatol 2000; 114: 1057.
33. Meybehm M, Fischer HP., Spiradenoma and dermal cylindroma: comparative immunohistochemical analysis and histogenetic considerations. Am J Dermatopathol 1997; 19: 154.
34. Massoumi R, Ralf P., Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control. BioEssays 2007; 29: 1203.