Nová zárodečná mutace v CYLD genu u slovenského pacienta s Brookeovým-Spieglerovým syndromem

Nová zárodečná mutace v CYLD genu u slovenského pacienta s Brookeovým-Spieglerovým syndromem

Autoři prezentují případ 64 leté ženy s Brookeovým-Spieglerovým syndromem s mnohočetnými kožními noduly a tumory lokalizovanými ve kštici. Histopatologické vyšetření projevu z periaurikulární krajiny odhalilo typický obraz cylindromu. V některých nádorových uzlech mohla být navíc detekována duktální diferenciace a příležitostně i přítomnost dvouřadých žlázek složených z tmavých bazálních/myoepitelálních buněk uložených periferně a luminálních mucinózních buněk. Místy byla detekována apokrinní sekrece. Molekulárně-biologická studie genu CYLD provedená z periferní krve prokázala mutaci v sestřihovém místě c.2041+1 G>T. Jedná se o zcela novou zárodečnou mutaci genu CYLD poprvé popsanou u slovenského pacienta s Brookeovým-Spieglerovým syndromem, která tak rozšiřuje spektrum dosud známých zárodečných mutací u tohoto onemocnění.

Klíčová slova:
adnexální tumory – Brookeův-Spieglerův syndrom – CYLD – cylindrom – apokrinní sekrece – bazocelulární karcinom

Autoři: Denisa Kacerovská ^1,2; Zoltán Szép ³; Lucka Kolláriková ⁴; Tomáš Vaneček ²; Michal Michal ^1,2 ; Dušan Daniš ³; Dmitry Kazakov ^1,2
Působiště autorů: Šikl’s Department of Pathology, Charles University in Prague, Medical Faculty in Pilsen, Pilsen, Czech Republic ¹; Bioptical Laboratory, Pilsen, Czech Republic ²; Cytopathos Laboratory, Bratislava, Slovak Republic ³; Department of Dermatology and Venereology, Comenius University Medical Faculty Hospital, Bratislava, Slovak Republic ⁴
Vyšlo v časopise: Čes.-slov. Patol., 49, 2013, No. 2, p. 89-92
Kategorie: Původní práce

Souhrn

Klíčová slova:
adnexální tumory – Brookeův-Spieglerův syndrom – CYLD – cylindrom – apokrinní sekrece – bazocelulární karcinom

Zdroje

1. Burrows NP, Jones RR, Smith NP. The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. Clin Exp Dermatol 1992; 17: 332-336.

2. Clarke J, Ioffreda M, Helm KF. Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis. Am J Dermatopathol 2002; 24: 402-405.

3. Delfino M, D’Anna F, Ianniello S, et al. Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). Dermatologica 1991; 183: 150-153.

4. Leonard N, Chaggar R, Jones C, et al. Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours. J Clin Pathol 2001; 54: 689-692.

5. Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 2000; 25: 160-165.

6. LeBoit PE, Burg G, Weedon D, et al. World Health Organization Classification of Tumours. Pathology and Genetics of Skin Tumours. IARC Press: Lyon 2006.

7. 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.

8. 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: 819-827.

9. 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: 251-265.

10. 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: 449-453.

11. Argenyi ZB, Nguyen AV, Balogh K, et al. Malignant eccrine spiradenoma. A clinicopathologic study. Am J Dermatopathol 1992; 14: 381-390.

12. 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: 705-719.

13. Kazakov DV, Grossmann P, Spagnolo DV, et al. Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. Am J Dermatopathol 2010; 32: 215-221.

14. 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: 886-890.

15. Pizinger K, Michal M. Malignant cylindroma in Brooke-Spiegler syndrome. Dermatology 2000; 201: 255-257.

16. 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: 385-388.

17. 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: 353-359.

18. Kakagia D, Alexiadis G, Kiziridou A, et al. Brooke-Spiegler syndrome with parotid gland involvement. Eur J Dermatol 2004; 14: 139-141.

19. Kostler E, Schonlebe J, Mentzel T, et al. Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. J Eur Acad Dermatol Venereol 2005; 19: 380-381.

20. 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: 1070-1075.

21. Scott AR, Faquin WC, Deschler DG. Parotid mass in a woman with multiple cutaneous cylindromas. Head Neck 2010; 32: 684-687.

22. Kazakov DV, Spagnolo DV, Kacerovska D, et al. Cutaneous type adnexal tumors outside the skin. Am J Dermatopathol 2011; 33: 303-315.

23. 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: 919-920.

24. Young AL, Kellermayer R, Szigeti R, et al. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet 2006; 70: 246-249.

25. Saggar S, Chernoff KA, Lodha S, et al. CYLD mutations in familial skin appendage tumours. J Med Genet 2008; 45: 298-302.

26. Liang YH, Sun CS, Ye XY, et al. Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. Br J Dermatol 2008; 158: 1156-1158.

27. Zuo YG, Xu Y, Wang B, et al. A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. Br J Dermatol 2007; 157: 818-821.

28. Lv HL, Huang YJ, Zhou D, et al. A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. J Dermatol Sci 2008; 50: 143-146.

29. 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: 640-642.

30. Grossman P, Vaněček 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 histopathological findings in 379 biopsy specimens. Am J Dermatopathol, in press.

31. Kazakov DV, Michal M, Kacerovská D, et al. Cutaneous adnexal tumors. LWW 2012. 2012.

32. Kazakov DV, Benková K, Michal M, et al. Skin type spiradenoma of the parotid gland with malignant transformation: report of a case with analysis of the CYLD gene. Hum Pathol 2009; 40: 1499-1503.

33. Kazakov DV, Thoma-Uszynski S, Vaněček 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: 664-673.

34. Šima R, Vaněček T, Kacerovská 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.

35. Nasti S, Pastorino L, Bruno W, et al. Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. Clin Genet 2009; 76: 481-485.

36. 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 2010; 10: 127-432.

37. Michal M. Spiradenoma associated with apocrine adenoma component. Pathol Res Pract 1996; 192: 1135-1139.

38. Kazakov DV, Magro G, Kutzner H, et al. Spiradenoma and spiradenocylindroma with an adenomatous or atypical adenomatous component: a clinicopathological study of 6 cases. Am J Dermatopathol 2008; 30: 436-441.

39. Kacerovska D, Kazakov DV, Kutzner H, et al. Spiradenoma with marked adenomyoepitheliomatous features. Am J Dermatopathol 2010; 32: 744-746.

40. Ziprkowski L, Schewach-Millet M. Multiple trichoepithelioma in a mother and two children. Dermatologica 1966; 132: 248-256.

41. Pariser RJ. Multiple hereditary trichoepitheliomas and basal cell carcinomas. J Cutan Pathol 1986; 13: 111-117.

42. Johnson SC, Bennett RG. Occurrence of basal cell carcinoma among multiple trichoepitheliomas. J Am Acad Dermatol 1993; 28: 322-326.

43. Harada H, Hashimoto K, Toi Y, et al. Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. Arch Dermatol 1997; 133: 666-667.

44. Yamamoto N, Gonda K. Multiple trichoepithelioma with basal cell carcinoma. Ann Plast Surg 1999; 43: 221-222.

45. Misago N, Narisawa Y. Basal cell carcinoma in association with multiple trichoepitheliomas. Dermatology 2001; 202: 261-265.

46. Pincus LB, McCalmont TH, Neuhaus IM, et al. Basal cell carcinomas arising within multiple trichoepitheliomas. J Cutan Pathol 2008;35 Suppl 1: 59-64.