Muir-Torre syndróm
Muir-Torre syndróm

Literatúra

  1. Cohen PR, Kohn SR, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med 1991;90:606-13.
  2. Lynch HT, Fusaro RM, Roberts L, Voorhees GJ, Lynch JF. Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. Br J Dermatol 1985;113:295-301.
  3. 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;41:567-72.
  4. Esche C, Kruse R, Lamberti C, et al. Muir-Torre syndrome: clinical features and molecular genetic analysis. Br J Dermatol 1997;136:913-7.
  5. Graham R, McKee P, McGibbon D, Heyderman E. Torre-Muir syndrome. An association with isolated sebaceous carcinoma. Cancer 1985;55:2868-73.
  6. Schwartz RA, Torre DP. The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 1995;33:90-104.
  7. Rutten A, Burgdorf W, Hugel H, et al. Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. Am J Dermatopathol 1999;21:405-13.
  8. Burgdorf WH, Pitha J, Fahmy A. Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations. Am J Dermatopathol 1986;8:202-8.
  9. Greenson JK, Bonner JD, Ben-Yzhak O, et al. Phenotype of microsatellite unstable colorectal carcinomas: Well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 2003;27:563-70.
  10. Orta L, Klimstra DS, Qin J, et al. Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics. Am J Surg Pathol 2009;33:934-44.
  11. Fahmy A, Burgdorf WH, Schosser RH, Pitha J. Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. Cancer 1982;49:1898-903.
  12. Misago N, Narisawa Y. Sebaceous neoplasms in Muir-Torre syndrome. Am J Dermatopathol 2000;22:155-61.
  13. Kazakov DV, Kutzner H, Rutten A, Mukensnabl P, Michal M. Carcinoid-Like Pattern in Sebaceous Neoplasms: Another Distinctive, Previously Unrecognized Pattern in Extraocular Sebaceous Carcinoma and Sebaceoma. Am J Dermatopathol 2005;27:195-203.
  14. Fukai K, Sowa J, Ishii M. Reticulated acanthoma with sebaceous differentiation. Am J Dermatopathol 2006;28:158-61.
  15. Haake DL, Minni JP, Nowak M, Abenoza P, Nousari CH. Reticulated acanthoma with sebaceous differentiation. Lack of association with Muir-Torre syndrome. Am J Dermatopathol 2009;31:391-2.
  16. Rishi K, Font RL. Sebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a clinicopathologic study of five cases and literature review. Ophthal Plast Reconstr Surg 2004;20:31-6.
  17. Stockl FA, Dolmetsch AM, Codere F, Burnier MN, Jr. Sebaceous carcinoma of the eyelid in an immunocompromised patient with Muir-Torre syndrome. Can J Ophthalmol 1995;30:324-6.
  18. Ackerman AB, Lee SN. Neoplasms in all organs of Muir-Torre syndrome are carcinomas: sebaceous carcinomas and squamous-cell carcinomas (keratoacanthomas) in skin and adenocarcinomas, squamous-cell carcinomas, and transitional-cell carcinomas in internal organs. Dermatopathology: Practical & Conceptual 1999;5:312-318.
  19. Lynch HT, Fusaro RM. The Muir-Torre syndrome in kindreds with hereditary nonpolyposis colorectal cancer (Lynch syndrome): A classic obligation in preventive medicine. J Am Acad Dermatol 1999;41:797-9.
  20. Bellizzi AM, Frankel WL. Colorectal cancer due to deficiency in DNA mismatch repair function: a review. Adv Anat Pathol 2009;16:405-17.
  21. Jass JR. Role of the pathologist in the diagnosis of hereditary non-polyposis colorectal cancer. Dis Markers 2004;20:215-24.
  22. Schulmann K, Brasch FE, Kunstmann E, et al. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology 2005;128:590-9.
  23. Goecke T, Schulmann K, Engel C, et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol 2006;24:4285-92.
  24. Capelle LG, Van Grieken NC, Lingsma HF, et al. Risk and Epidemiological Time Trends of Gastric Cancer in Lynch Syndrome Carriers in The Netherlands. Gastroenterology 2009.
  25. Meyer LA, Broaddus RR, Lu KH. Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Control 2009;16:14-22.
  26. Karamurzin Y, Rutgers JK. DNA mismatch repair deficiency in endometrial carcinoma. Int J Gynecol Pathol 2009;28:239-55.
  27. Westin SN, Lacour RA, Urbauer DL, et al. Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol 2008;26:5965-71.
  28. Garg K, Soslow RA. Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol 2009;62:679-84.
  29. Soliman PT, Broaddus RR, Schmeler KM, et al. Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome? J Clin Oncol 2005;23:9344-50.
  30. Roupret M, Yates DR, Comperat E, Cussenot O. Upper urinary tract urothelial cell carcinomas and other urological malignancies involved in the hereditary nonpolyposis colorectal cancer (lynch syndrome) tumor spectrum. Eur Urol 2008;54:1226-36.
  31. Akhtar S, Oza KK, Khan SA, Wright J. 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;41:681-6.
  32. Sparr JA, Bandipalliam P, Redston MS, Syngal S. Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome. Am J Surg Pathol 2009;33:309-12.
  33. Oman SA, Ballinger L, Cerilli LA. Small cell carcinoma: arising in Lynch syndrome: a previously undocumented occurrence. Int J Surg Pathol 2009;17:46-50.
  34. 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 Amsterdam criteria. Am J Hum Genet 1998;63:63-70.
  35. Yuen ST, Chan TL, Ho JW, et al. Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 2002;21:7585-92.
  36. Peltomaki P, Lothe RA, Aaltonen LA, et al. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res 1993;53:5853-5.
  37. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-9.
  38. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
  39. Entius MM, Keller JJ, Drillenburg P, Kuypers KC, Giardiello FM, Offerhaus GJ. Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. Clin Cancer Res 2000;6:1784-9.
  40. Ponti G, Losi L, Di Gregorio C, et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer 2005;103:1018-25.
  41. Kruse R, Ruzicka T. DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention. Trends Mol Med 2004;10:136-41.
  42. Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol 2002;26:338-43.
  43. Mangold E, Rahner N, Friedrichs N, et al. MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol 2007;156:158-62.
  44. 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;6:317-21.
  45. Ponti G, Losi L, Pedroni M, et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 2006;126:2302-7.
  46. Barnetson RA, Devlin L, Miller J, et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet 2007;72:551-5.
  47. Ponti G, Ponz de Leon M, Maffei S, et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 2005;68:442-7.
  48. Shia J, Tang LH, Vakiani E, et al. Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol 2009;33:1639-45.
  49. Cesinaro AM, Ubiali A, Sighinolfi P, Trentini GP, Gentili F, Facchetti F. Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancer. Am J Dermatopathol 2007;29:351-8.
  50. Morales-Burgos A, Sanchez JL, Figueroa LD, et al. MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms. P R Health Sci J 2008;27:322-7.
  51. Doxey BW, Kuwada SK, Burt RW. Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing. Clin Gastroenterol Hepatol 2005;3:633-41.
  52. Machin P, Catasus L, Pons C, et al. Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. J Cutan Pathol 2002;29:415-20.
  53. Overbeek LI, Ligtenberg MJ, Willems RW, et al. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am J Surg Pathol 2008;32:1246-51.
  54. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003;138:560-70.
  55. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004;41:664-8.
  56. South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 2008;100:277-81.
  57. Plaschke J, Engel C, Kruger S, et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 2004;22:4486-94.
  58. Singh RS, Grayson W, Redston M, et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol 2008;32:936-42.
  59. Farrington SM, McKinley AJ, Carothers AD, et al. Evidence for an age-related influence of microsatellite instability on colorectal cancer survival. Int J Cancer 2002;98:844-50.
  60. ten Kate GL, Kleibeuker JH, Nagengast FM, et al. Is surveillance of the small bowel indicated for Lynch syndrome families? Gut 2007;56:1198-201.
  61. Plaschke J, Linnebacher M, Kloor M, et al. Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Eur J Hum Genet 2006;14:561-6.
  62. Poley JW, Wagner A, Hoogmans MM, et al. Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer 2007;109:2349-56.
  63. Wang Q, Lasset C, Desseigne F, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999;59:294-7.
  64. Toledano H, Goldberg Y, Kedar-Barnes I, et al. Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Fam Cancer 2009;8:187-94.
  65. Whiteside D, McLeod R, Graham G, et al. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. Cancer Res 2002;62:359-62.
  66. Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ. A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. Fam Cancer 2004;3:123-7.
  67. Kruger S, Kinzel M, Walldorf C, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet 2008;16:62-72.
  68. Järvinen HJ, Renkonen-Sinisalo L, Aktán-Collán K, Peltomäki P, Aaltonen LA, Mecklin JP. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcomes in mutation-positive and mutation-negative family members. J Clin Oncol 2009;27(28):4793-4797.
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