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Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours

Lookup NU author(s): Dr Niamh Leonard


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Aim-The gene for familial cylindromatosis (CYLD) has been localised to chromosome 16q, and has recently been cloned. Loss of heterozygosity (LOH) at 16q has also been demonstrated in sporadic cylindromas. The aim of this study was to investigate whether CYLD plays a role in the development of other skin appendage tumours. Methods-A total of 55 cases of skin adnexal tumours, comprising 12 different types, and a control group of 14 squamous cell carcinomas (SCCs) and basal cell carcinomas (BCCs) were studied. Three microsatellites (D16S407 (16p), D16S304 (16q), and D16S308 (16q)) were analysed for LOH after microdissection from paraffin wax embedded sections using laser capture microdissection. Results-In keeping with previous data, a proportion of cylindromas exhibited LOH at markers on 16q, but not at 16p. The skin adnexal tumours showing a similar pattern included apocrine hydrocystomas, eccrine spiradenomas, and sebaceous adenoma. One case of syringoma showed LOH at 16q, and a further case at 16p, but not 16q. One case of eccrine hydrocystoma showed loss at 16p, but not 16q. The remaining tumours were either negative or non-informative. All tumours in the control group were either negative or non-informative, except for a single case of BCC showing LOH at 16q. Conclusion-CYLD may be involved in the development of skin adnexal tumours other than cylindromas.

Publication metadata

Author(s): Leonard N; Chaggar R; Jones C; Takahashi M; Nikitopoulou A; Lakhani SR

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Pathology

Year: 2001

Volume: 54

Issue: 9

Pages: 689-692

ISSN (print): 0021-9746

ISSN (electronic):

Publisher: BMJ Group


DOI: 10.1136/jcp.54.9.689


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