Abstract
The human skin is a complex organ composed of the surface epidermis, the subjacent dermis (in which blood vessels, lymphatics and nerves are located) and the skin appendages. The latter include hair follicles, sebaceous glands (which secrete lipids that may serve as a permeability barrier, emollient or antimicrobial agent1), apocrine glands (which secrete scents2,3) and eccrine glands (which produce sweat for temperature control). Hereditary cylindromatosis (MIM 123850) is a rare autosomal dominant disease characterised by the development of multiple neoplasms originating from the skin appendages. These neoplasms have been termed cylindromas due to their characteristic microscopic architecture and are believed to exhibit apocrine or eccrine differentiation4. We have carried out a genome search using two families with this disease, which has provided strong evidence for linkage of cylindromatosis to loci on chromosome 16q12–q13. Using markers close to the cylindromatosis gene, consistent loss of the wild-type allele was observed in 19 tumours from four individuals in the two families, indicating that the gene is likely to be a tumour suppressor gene.
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References
Stenn, K.S. in Histology, Cell and Tissue Biology (ed. Weiss, L.) 569–606 (Macmillan Press, New York, 1983).
Irwin, L.R., Bainbridge, L.C., Reid, C.A., Piggot, T.A. & Brown, H.G. Dermal eccrine cylindroma (turban tumour). Br. J. Plast. Surg. 43, 702–705 (1990).
Lever, W.F. & Schaumberg-Lever, G. Histopathdogy of the Skin (JB Lippincott Co., Philadelphia, 1990).
Abenoza, P. & Akerman, A.B. Neoplasms with Eccrine Differentiation (Lea and Febtger, Philadelphia, 1990).
Crain, R.C. & Helwig, E.B. Dermal cylindroma (dermal eccrine cylindroma). Am. J. clin. Pathol. 6, 504–515 (1961).
Alawi, M.H., Hobby, J.A.E. & Lesna, M. Familial dermal cylindroma with involvement of the parotid gland. Br. J. Plast. Surg. 35, 167–170 (1982).
Autio-Harmainen, H., Pääkkö, P., Alavaikko, M., Karvonen, J. & Leisti, J. Familial occurrence of malignant lymphoeprthelial lesion of the parotid gland in a finnish family with dominantry inherited trichoepithelioma. Cancer 61, 161–166 (1988).
Ferrandiz, C., Campo, E. & Baumann, E. Dermal cylindromas (turban tumour) and eccrine spiradenomas in a patient with membraneous basal cell adenoma of the parotid gland. J. cutan. Pathol. 12, 72–79 (1985).
Hyma, B.A., Scheithauer, B.W., Weiland, L.H. & Irons, G.B. Membranous basal cell adenoma of the parotid gland: malignant transformation in a patient with multiple dermal cylindromas. Arch. Pathol. Lab. Med. 112, (1988).
Pingitore, R. & Campani, D. Salivary gland involvement in a case of dermal eccrine cylindroma of the scalp (turban tumour). Report of a case with lung metastases. Tumourigenesis 70, 385–388 (1984).
Reingold, I.M., Keasbey, L.E. & Graham, J.H. Murticentric dermal-type cylindromas of the parotid glands in a patient with florid tuban tumour. Cancer 40, 1702–1710 (1977).
Vernon, H.J., A, O.E. & Vollmer, R.T. Autosomal dominant multiple cylindromas associated with solitary lung cylindroma. J. Am. Acad. Dermatol. 19, 397–400 (1988).
Shapiro, P.E. & Kopf, A.W. Familail multiple desmoplastic trichoepitheliomas. Arch. Dermatol. 127, 83–87 (1991).
Fabian, R.L. & Shugar, M.A. Florid dermal cylindroma (turban tumour). Head Neck Surg. 4, 165–169 (1981).
Freeman, A.M. & Woods, J.E. Total scalp excision and auricular resurfacing for dermal cylindroma (turban tumour). Annl. Plast. Surg. 22, 50–57 (1989).
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–601 (1992).
Gyapay, G. et al. The 1993–94 Genethon human genetic linkage map. Nature Genet. 7, 246–250 (1994).
Yeung, R.S. et al. The retinoblastoma-related gene RB2, maps to human chromosome 16q12 and rat chromosome 19. Oncogene 8, 3465–3468 (1993).
Mayol, X. et al. Cloning of a new member of the retinoblastoma gene family (pRB2) which binds to the E1A transforming domain. Oncogene 8, 2561–2566 (1993).
Claudio, P.P. et al. p130/pRb2 has growth suppressive properties similar to yet distinct from those of retinoblastoma family members pRb and p107. Cancer Res. 54, 5556–5560 (1994).
Murtagh, J.J., Eddy, R., Shows, T.B., Moss, J. & Vaughan, M. Different forms of Goα mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16. Molec. cell. Biol. 11, 1146–1155 (1991).
Tsuji, S., Kobayashi, H., Uchida, Y., Ihara, Y. & Miyatake, T. Molecular cloning of human growth inhibitory factor cDNA and its down-regulation in Alzheimer's disease. EMBO J 11, 4843–4850 (1992).
Knudson, A.G. Antioncogenes and human cancer. Proc. natn. Acad. Sci. U.S.A. 90, 10914–10921 (1993).
Cavenee, W.K. et al. Genetic origin of mutations predisposing to retinoblastoma. Science 228, 501–503 (1985).
Kelsell, D.P., Black, D.M., Bishop, D.T. & Spurr, N.K. Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum. mol. Genet. 2, 1823–1828 (1993).
Smith, S.A., Easton, D.F., Evans, D.G. & Ponder, B.A.J. Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet. 2, 128–131 (1992).
Collins, N. et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12–13. Oncogene 10, 1673–1675 (1995).
Lathrop, G.M., Latouel, J.M., Julier, C. & Ott, J. Strategies for multifocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
Cottingham, R.W., Jr, Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. hum. Genet. 53, 252–263 (1993).
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Biggs, P., Wooster, R., Ford, D. et al. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12–q13: evidence for its role as a tumour suppressor gene. Nat Genet 11, 441–443 (1995). https://doi.org/10.1038/ng1295-441
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DOI: https://doi.org/10.1038/ng1295-441
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