Diseases of DNA Repair pp 186-195

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 685) | Cite as

Muir-Torre Syndrome

  • Pedro Mercader

Abstract

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis that consists of unusual cutaneous sebaceous neoplasm, with or without kerathoacantomas and one or more low-grade visceral malignancies, with or without colonic polyps, in the absence of other predisposing factors. This chapter presents a review of the principal clinical and genetic findings in this syndrome and discusses its relation with Lynch sy

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Schwart RA, Torre DP. The Muir-Torre syndrome: A 25-year retrospect. J Am Acad Dermatol 1995; 33:90–104.CrossRefGoogle Scholar
  2. 2.
    Muir EG, Bell AJY, Barlow KA. Multiple primary carcinomata of the colon, duodenum and larynx associated with keratho-acanthomata of the face. Br J Surg 1967; 54:191–195.PubMedCrossRefGoogle Scholar
  3. 3.
    Torre D. Society transactions: New York Dermatological Society, Oct 24, 1967 (multiple sebaceous tumors). Arch Dermatol 1968; 98:549–551.PubMedCrossRefGoogle Scholar
  4. 4.
    Baker PM, Tjon A, Joe SS. Multiple sebaceous gland tumours with multiple tumours of internal organs. A new syndrome? Dermatologica 1971; 142:50–57.CrossRefGoogle Scholar
  5. 5.
    Akhtar S, Oza KK, Khan SA et al. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol 1999; 41:681–686.PubMedCrossRefGoogle Scholar
  6. 6.
    Anderson DE. An inherited form of large bowel cancer: Muir’s syndrome. Cancer 1980; 45:1103–1107.PubMedCrossRefGoogle Scholar
  7. 7.
    Cohen PR, Kohn SR, Kurzrock R. Association or sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med 1991; 90:606–613.PubMedGoogle Scholar
  8. 8.
    Lynch HT, Lynch PM, Pester J et al. The cancer family syndrome: rare cutaneous phenotypic linkage of Torre’s syndrome. Arch Intern Med 1981; 141:607–611.PubMedCrossRefGoogle Scholar
  9. 9.
    Lynch HT, Fusaro RM, Roberts L et al. Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome. Br J Dermatol 1985; 113:295–301.PubMedCrossRefGoogle Scholar
  10. 10.
    Warthin AS. Heredity with reference to carcinoma as shown by the cases examined in the pathological laboratory of the University of Michigan 1895–1913. Arch Intern Med 1913; 96:261–268.Google Scholar
  11. 11.
    Kolodner RD, Hall NR, Lipford J et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for MSH2 mutations. Genomics 1994; 24:516–526.PubMedCrossRefGoogle Scholar
  12. 12.
    Liu B, Parsons R, Papadopoulos N et al hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 1994; 54:4590–4594.PubMedGoogle Scholar
  13. 13.
    Kruse R, Lamberti C, Wang Y et al. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 1996; 98:747–750.PubMedCrossRefGoogle Scholar
  14. 14.
    Bapat B, Xia L, Madlensky L et al. The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 1996; 59:736–739.PubMedGoogle Scholar
  15. 15.
    Esche C, Kruse R, Lamberti C et al. Muir-Torre syndrome: clinical features and molecular genetic analysis. Br J Dermatol 1997; 136:913–917.PubMedCrossRefGoogle Scholar
  16. 16.
    Kruse R, Rutten A, Lamberti C et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdarm criteria. Am J Hum Genet 1998; 63:63–70.PubMedCrossRefGoogle Scholar
  17. 17.
    Southey MC, Young MA, Whitty J et al. Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis. Am J Surg Pathol 2001; 25:936–941.PubMedCrossRefGoogle Scholar
  18. 18.
    Mercader P, Garcia-Melgares ML, Roche E et al. Clinical follow-up and presence of visceral tumors in 12 patients with sebaceous gland tumours. Actas Dermosifiliogr 2008; 99:532–539.PubMedCrossRefGoogle Scholar
  19. 19.
    Requena C, Requena L. Criterios histopatológicos de diferenciación sebácea. In: Requena L, editor. Neoplasias anexiales cutáneas. Madrid: Grupo Aula Médica 2004; 359–363.Google Scholar
  20. 20.
    Finan MC, Connolly SM. Sebaceous gland tumors and sistemic disease: a clinicipathologic análisis. Medicine 1984; 63:232–242.PubMedCrossRefGoogle Scholar
  21. 21.
    Balzer F, Menetrier P. Report of a case of sebaceous adenoma. Arch Physiol 1885; 6:564–570.Google Scholar
  22. 22.
    Lever WF. Sebaceous adenoma: review of the literature and report of a case. Arch Dermatol 1948; 57:102–111.Google Scholar
  23. 23.
    Nussen S, Ackerman AB. Sebaceous “adenoma” is sebaceous carcinoma. Dermatopathol Pract Concep 1998; 4:5–14.Google Scholar
  24. 24.
    Lever WF. Histopathology of the skin. Philadelphia, J.B. Lippincott 1949:273.Google Scholar
  25. 25.
    Requena L, Requena C. Sebomatricoma. In: Requena L, ed. Neoplasias anexiales cutáneas. Madrid: Grupo Aula Médica 2004; 435–447.Google Scholar
  26. 26.
    Troy Jl, Ackerman AB. Sebaceoma. A distinctive benign neoplasm of adnexal epithelium differentiating towards sebaceous cells. Am J Dermatopathol 1984; 6:7–13.PubMedCrossRefGoogle Scholar
  27. 27.
    Requena L, Requena C. Carcinoma basocelular de diferenciación sebácea. In: Requena L, ed. Neoplasias anexiales cutáneas. Madrid: Grupo Aula Médica; 2004; 459–465.Google Scholar
  28. 28.
    Sanchez-Yus E, Requena L, Simón P et al. Sebomatricoma: a unifying term that encompasses all benign neoplasm with sebaceous differentiation. Am J Dermatopathol 1995; 17:213–221.CrossRefGoogle Scholar
  29. 29.
    Simon RS, de Eusebio E, Alvarez Viétieiz S et al. Proliferaciones con diferenciación sebácea. II: Hiperplasias y neoplasias. Actas Dermosifiliogr 1998; 89:651–664.Google Scholar
  30. 30.
    Allaire G. Contribution a l’etude du polyadénoma ou epitelioma intra-glandulaire. Thesis, Paris 1891.Google Scholar
  31. 31.
    Lazar AJF, McKee PH. Tumors and related lesions of the sebaceous glands. In: McKee Ph, Calonje E, Granter SR, eds. Pathology of the skin with clinical correlations. London: Elsevier 2005; 1565–1588.Google Scholar
  32. 32.
    Dores GM, Curtis RE, Toro JR et al. Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasm: insight into Muir-Torre syndrome. Cancer 2008; 113:3372–3381.PubMedCrossRefGoogle Scholar
  33. 33.
    Cohen PR, Kohn SR, Davis DA et al. Muir-Torre syndrome. Dermatol Clin 1995; 13:79–89.PubMedGoogle Scholar
  34. 34.
    Serleth HJ, Kisken WA. A Muir-Torre syndrome family. Am Surgeon 1998; 64:365–369.PubMedGoogle Scholar
  35. 35.
    Ponti G, Ponz de Leon M. Muir-Torre síndrome. Lancet Oncol 2005; 6:980–987.PubMedCrossRefGoogle Scholar
  36. 36.
    Thornton CM, Hunt S. Sebaceous adenoma with a cutaneous horn. J Cutan Pathol 1995; 22:185–7.PubMedCrossRefGoogle Scholar
  37. 37.
    Ferguson JW, Geary CP, Mac Alister AD. Sebaceous cell adenoma. Rare intra-oral occurrence of a tumor wich is a frequent marker of Torre’s syndrome. Pathology 1987; 19:204–208.PubMedCrossRefGoogle Scholar
  38. 38.
    Gnepp DR, Brannon R. Sebaceous neoplasm of salivary origin. Cancer 1984; 53:2155–2170.PubMedCrossRefGoogle Scholar
  39. 39.
    Ni C, Sealr SS, Kuo PK et al. Sebaceous cell carcinomas of the ocular adnexa. Int Ophthalmol Clin 1982; 22:23–61.PubMedCrossRefGoogle Scholar
  40. 40.
    Gurin DM, Rapini R. Aggressive sebaceous carcinoma of the eyelid: an elusive diagnosis. Cutis 1993; 52:40–42.PubMedGoogle Scholar
  41. 41.
    Requena L, Requena C, Sánchez M et al. Carcinoma sebáceo de párpado. Piel 1988; 3:6–10.Google Scholar
  42. 42.
    Brownstein S, Codere F, Jackson WB. Masquerade syndrome. Ophtalmology 1980; 87:259–262.Google Scholar
  43. 43.
    Gloor P, Ansari I, Sinard J. Sebaceous carcinoma presenting as unilateral papillary conjunctivitis. Am J Ophtalmol 1999; 127:458–459.CrossRefGoogle Scholar
  44. 44.
    Requena L, Fernandez Herrera J. Carcinoma sebáceo. In: Requena L, editor. Neoplasias anexiales cutáneas. Madrid: Grupo Aula Médica 2004; 467–486.Google Scholar
  45. 45.
    Liu CJ, Chang KW, Chang RC. Sebaceous carcinoma of the buccal mucosa. Report of a case. Int J Oral Maxilofac Surg 1997; 26:293–294.CrossRefGoogle Scholar
  46. 46.
    Ohara N, Taguchi K, Yamamoto M et al. Sebaceous carcinoma of the submandibular gland with high-grade malignancy: report of a case. Pathol Int 1998; 48:287–291.PubMedCrossRefGoogle Scholar
  47. 47.
    Siriwardena BS, Tilakaratne WM, Rajapakshe RM. A case of sebaceous carcinoma of the parotid gland. J Oral Pathol Med 2003; 32:121–123.PubMedCrossRefGoogle Scholar
  48. 48.
    Hisaoka M, Takamatsu Y, Hirano Y et al. Sebaceous carcinoma of the breast: case report and review of the literature. Virchows Arch 2006; 449:484–488.PubMedCrossRefGoogle Scholar
  49. 49.
    Ribeiro-Silva A, Chang D, Bisson FW et al. Clinicopathological and immunohistochemical features of a sebaceous carcinoma arising within a benign dermoid cyst of the ovary. Virchows Arch 2003; 443:574–578.PubMedCrossRefGoogle Scholar
  50. 50.
    Yen MT, Tse DT. Sebaceous cell carcinoma of the eyelid and the human immunodeficiency virus. Ophthal Plast Reconstr Surg 2000; 16:206–210.PubMedCrossRefGoogle Scholar
  51. 51.
    Harwood CA, Swale VJ, Bataille VA et al. An association between sebaceous carcinoma and microsatellite instability in immunosuppressed organ transplant recipients. J Invest Dermatol 2001; 116:246–253.PubMedCrossRefGoogle Scholar
  52. 52.
    Kivelä T, Asko-Seljavaara S, Pihkala U et al. Sebaceous carcinoma of the eyelid associated with retinoblastoma. Ophthalmology 2001; 108:1124–1128.PubMedCrossRefGoogle Scholar
  53. 53.
    Rumelt S, Hogan NR, Rubin PA et al. Four-eyelid sebaceous cell carcinoma following irradiation. Arch Ophthalmol 1998; 116:1670–1672.PubMedGoogle Scholar
  54. 54.
    Schlernitzauer DA, Font RL. Sebaceous gland carcinoma of the eyelid. Following radiation therapy for cavernous hemangioma of the face. Arch Ophthslmol 1976; 94:1523–1525.Google Scholar
  55. 55.
    Lynch HT, Fusaro RM, Lynch PM. Sebaceous skin lesions as clues to hereditary nonpolyposis colorectal cancer. J Invest Dermatol 2006; 126:2158–159.PubMedCrossRefGoogle Scholar
  56. 56.
    Ponti G, Losi L, Di Gegorio C et al. Identification of Muir-Torre síndrome among patients with sebaceous tumors and keratoacanthomas. Role of clinical features, microsatellite instability and immnuohistochemistry. Cancer 2005; 103:1018–1125.PubMedCrossRefGoogle Scholar
  57. 57.
    Mangold E, Pagenstecher C, Leister M et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004; 41:567–572.PubMedCrossRefGoogle Scholar
  58. 58.
    Rodenas JM, Herranz MT, Tercedor J et al. Muir-Torre síndrome associated with a family history of hyperlipidemia. J Am Acad Dermatol 1993; 28:285–288.PubMedCrossRefGoogle Scholar
  59. 59.
    Yamamoto T, Katayama I, Nishioka K. A possible role of interleukin-8 in the induction of psoriasis-like lesions in Torre-Muir syndrome. Acta Derm Venereol 1996; 76:75–77.PubMedGoogle Scholar
  60. 60.
    Kruse R, Ruzicka T. DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention. Trends Mol Med 2004; 10:136–141.PubMedCrossRefGoogle Scholar
  61. 61.
    Mangold E, Rahner N, Friedrichs N et al. MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? British Journal of Dermatology 2007; 156:158–162.PubMedCrossRefGoogle Scholar
  62. 62.
    Marazza G, Masouye I, Taylor S et al. An illustrative case of Muir-Torre syndrome. Contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. Arch Dermatol 2006; 142:1039–1042.PubMedCrossRefGoogle Scholar
  63. 63.
    Arnold A, Payne S, Fisher S et al. An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. Fam Cancer 2007; 6:317–321.PubMedCrossRefGoogle Scholar
  64. 64.
    Chhibber V, Dresser K, Mahalingam M. MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. Mod Pathol 2008; 21:159–64.PubMedGoogle Scholar
  65. 65.
    Ponti G, Ponz de Leon M, Maffei S et al. Attenuated familial adenomatous polyposis and Muir-Torre síndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 2005; 68:442–447.PubMedCrossRefGoogle Scholar

Copyright information

© Landes Bioscience and Springer Science+Business Media 2010

Authors and Affiliations

  • Pedro Mercader
    • 1
  1. 1.Dermatology Service Hospital GeneralUniversitario Morales MeseguerMurciaSpain

Personalised recommendations