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Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours
  1. N Leonard * ,
  2. R Chaggar * ,
  3. C Jones,
  4. M Takahashi,
  5. A Nikitopoulou,
  6. S R Lakhani
  1. Department of Histopathology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK
  2. Department of Histopathology, Ludwig Institute for Cancer Research, University College London, London W1P 8BT, UK
  3. Department of Histopathology, Royal Free and University College Medical School, University College London, Rockefeller Building, University Street, London WC1E 6JJ, UK
  4. Institute for Cancer Research, Sutton, Surrey SM2 5NG, UK
  1. Dr Lakhani Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UKlakhani{at}


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.

  • cylindromatosis locus CYLD
  • loss of heterozygosity
  • skin adnexal tumours

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  • * These two authors contributed equally to this work