Brooke-Spiegler Syndrome and Phenotypic Variants: An Update

Head and Neck Pathology

Volumn 10, Issue 2, 2016, Pages 125-130

  Kazakov, Dmitry V ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Brooke Spiegler syndrome; CYLD gene; Cylindroma; Spiradenoma; Trichoepithelioma

Indexed keywords

CYLD PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

GENETICS; GENOTYPE; GERMLINE MUTATION; HEREDITARY TUMOR; HUMAN; PATHOLOGY; PHENOTYPE; SKIN TUMOR;

GENOTYPE; GERM-LINE MUTATION; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; PHENOTYPE; SKIN NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 84961150254     PISSN: 1936055X     EISSN: 19360568     Source Type: Journal    
DOI: 10.1007/s12105-016-0705-x     Document Type: Article

References (30)

1. Clarke J, Ioffreda M, Helm KF. Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis. Am J Dermatopathol. 2002;24:402–5.
2. Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet. 2000;25:160–5.
3. Kazakov DV, Soukup R, Mukensnabl P, et al. Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. Am J Dermatopathol. 2005;27:27–33.
4. Puig L, Nadal C, Fernandez-Figueras MT, et al. Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. Am J Dermatopathol. 1998;20:56–60.
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;24:449–53.
6. Kazakov DV, Zelger B, Rutten 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;33:705–19.
7. Tantcheva-Poór I, Vanecek T, Lurati MC, et al. Report of three novel germline CYLD mutations in unrelated patients with Brooke-Spiegler syndrome, including classic phenotype, multiple familial trichoepitheliomas and malignant transformation. Dermatology 2016;232(1):30–7. doi:10.1159/000437303.
8. 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;124:919–20.
9. Young AL, Kellermayer R, Szigeti R, et al. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet. 2006;70:246–9.
10. Saggar S, Chernoff KA, Lodha S, et al. CYLD mutations in familial skin appendage tumours. J Med Genet. 2008;45:298–302.
11. Pingitore R, Campani D. Salivary gland involvement in a case of dermal eccrine cylindroma of the scalp (turban tumor). Report of a case with lung metastases. Tumori. 1984;70:385–8.
12. Rockerbie N, Solomon AR, Woo TY, et al. Malignant dermal cylindroma in a patient with multiple dermal cylindromas, trichoepitheliomas, and bilateral dermal analogue tumors of the parotid gland. Am J Dermatopathol. 1989;11:353–9.
13. Scott AR, Faquin WC, Deschler DG. Parotid mass in a woman with multiple cutaneous cylindromas. Head Neck. 2010;32:684–7.
14. Nonaka D, Rosai J, Spagnolo D, et al. Cylindroma of the breast of skin adnexal type: a study of 4 cases. Am J Surg Pathol. 2004;28:1070–5.
15. Zarbo RJ, Ricci A Jr, Kowalczyk PD, et al. Intranasal dermal analogue tumor (membranous basal cell adenoma). Ultrastructure and immunohistochemistry. Arch Otolaryngol. 1985;111:333–7.
16. Kazakov DV, Michal M, Kacerovska D, et al. Cutaneous adnexal tumors. Philadelphia: LWW; 2012. p. 814.
17. Linos K, Schwartz J, Kazakov DV, et al. Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. Am J Dermatopathol. 2011;33:640–2.
18. Hester CC, Moscato EE, Kazakov DV, et al. A new cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. Ophthalmic Plast Reconstr Surg. 2013;29:e10–1.
19. Kazakov DV, Vanecek T, Nemcova J, et al. Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes. Am J Dermatopathol. 2009;31:819–27.
20. Pincus LB, McCalmont TH, Neuhaus IM, et al. Basal cell carcinomas arising within multiple trichoepitheliomas. J Cutan Pathol. 2008;35(Suppl 1):59–64.
21. Headington JT, Batsakis JG, Beals TF, et al. Membranous basal cell adenoma of parotid gland, dermal cylindromas, and trichoepitheliomas. Comparative histochemistry and ultrastructure. Cancer. 1977;39:2460–9.
22. Reingold IM, Keasbey LE, Graham JH. Multicentric dermal-type cylindromas of the parotid glands in a patient with florid turban tumor. Cancer. 1977;40:1702–10.
23. Ellis GL, Wiscovitch JG. Basal cell adenocarcinomas of the major salivary glands. Oral Surg Oral Med Oral Pathol. 1990;69:461–9.
24. Hyman BA, Scheithauer BW, Weiland LH, et al. Membranous basal cell adenoma of the parotid gland. Malignant transformation in a patient with multiple dermal cylindromas. Arch Pathol Lab Med. 1988;112:209–11.
25. Kazakov DV, Schaller J, Vanecek T, et al. 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;37:886–90.
26. 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;19:83–91.
27. Grossmann P, Vanecek T, Steiner P, et al. Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. Am J Dermatopathol. 2013;35:34–44.
28. Kazakov DV, Thoma-Uszynski S, Vanecek T, et al. A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. Am J Dermatopathol. 2009;31:664–73.
29. 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;10:127–32.
30. Vanecek T, Halbhuber Z, Kacerovska D, et al. Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. Am J Dermatopathol. 2014;36:868–74.