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Le syndrome de Lynch

Henry Thomson Lynch, un itinéraire exemplaire de la génétique clinique à la biologie moléculaire
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Abstrait

Elle commence, 71 ans avant sa publication princeps en 1966 [1], par l’observation clinique de cancers faite en 1895 par Aldred Scott Warthin (1866–1931) (Fig. 1) dans une famille dont il publia la généalogie en 1913, au sein de l’ensemble des cas «familiaux» de cancer vus dans les hôpitaux universitaires du Michigan entre 1895 et 1913 [2]. En 1895, Aldred Warthin était un célèbre médecin anatomopathologiste de l’Université d’Ann Arbor : il apprit un jour que sa couturière était déprimée par la certitude qu’elle avait de mourir jeune d’un cancer «génital» ou «des intestines», comme la plupart des membres de sa vaste famille. Elle mourut effectivement à un age encore jeune de métastases d’un cancer de l’endomètre. Après l’article de 1913 où il signalait la fréquence de cancers de l’utérus, du côlon et de l’estomac dans cette famille qu’il appela «G», Warthin actualisa, en 1925 et 1931, la généalogie de la famille G, dont le premier ancêtre connu était né en 1796 à Plattenhardt (Allemagne) et avait émigré aux États-Unis en 1831.

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Références

  1. 1.
    Lynch H.T., Shaw M.W., Magnuson C.W., Larsen A.L., Krush A.J. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 1966; 117: 206–12PubMedCrossRefGoogle Scholar
  2. 2.
    Warthin A.S. Heredity with reference to carcinoma. Arch Intern Med 1913; 12: 546–55CrossRefGoogle Scholar
  3. 3.
    Lynch H.T., Krush A.J. Cancer family “G” revisited: 1895–1970. Cancer 1971; 27: 1505–11PubMedCrossRefGoogle Scholar
  4. 4.
    Douglas J.A., Gruber S.B., Meister K.A. et al. History and molecular genetics of Lynch syndrome in family G: a century later. JAMA 2005; 294: 2195–202PubMedCrossRefGoogle Scholar
  5. 5.
    Lynch H.T., Lynch J.F. Lynch syndrome: history and current status. Dis Markers 2004; 20: 181–98PubMedGoogle Scholar
  6. 6.
    Cantor D. The frustrations of families: Henry Lynch, heredity, and cancer control, 1962–1975. Med Hist 2006; 50: 279–302PubMedGoogle Scholar
  7. 7.
    Boland C.R. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. FamCancer 2005; 4: 211–8Google Scholar
  8. 8.
    Necochea R. From cancer families to HNPCC: Henry Lynch and the transformations of hereditary cancer, 1975–1999. Bull Hist Med 2007; 81: 267–85PubMedCrossRefGoogle Scholar
  9. 9.
    Lynch H.T., Cristofaro G., Rozen P. et al. History of the International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer. FamCancer 2003; 2: 3–5Google Scholar
  10. 10.
    Vasen H.F., Mecklin J.P., Khan P.M., Lynch H.T. The international collaborative group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424–5PubMedCrossRefGoogle Scholar
  11. 11.
    Vasen H.F., Watson P., Mecklin J.P., Lynch H.T. New clinical criteria for hereditary non polyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by The international collaborative group on HNPCC. Gastroenterology 1999; 116: 1453–6PubMedCrossRefGoogle Scholar
  12. 12.
    Rodriguez-Bigas M.A., Boland C.R., Hamilton S.R. et al. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89: 1758–62PubMedCrossRefGoogle Scholar
  13. 13.
    Thibodeau S.N., Bren G., Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993; 260: 816–9PubMedCrossRefGoogle Scholar
  14. 14.
    Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363: 558–61PubMedCrossRefGoogle Scholar
  15. 15.
    Peltomaki P., Aaltonen L.A., Sistonen P. et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260: 810–2PubMedCrossRefGoogle Scholar
  16. 16.
    Lindblom A., Tannergard P., Werelius B., Nordenskjold M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 1993; 5: 279–82PubMedCrossRefGoogle Scholar
  17. 17.
    Fishel R., Lescoe M.K., Rao M.R. et al. The human mutator gene homolog MSH2 and its association with hereditary non polyposis colon cancer. Cell 1993; 75: 1027–38PubMedCrossRefGoogle Scholar
  18. 18.
    Leach F.S., Nicolaides N.C., Papadopoulos N. et al. Mutations of a mutS homolog in hereditary non polyposis colorectal cancer. Cell 1993; 75: 1215–25PubMedCrossRefGoogle Scholar
  19. 19.
    Lynch H.T., Coronel S.M., Okimoto R. et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 2004; 291: 718–24PubMedCrossRefGoogle Scholar
  20. 20.
    Lynch H.T., Lynch J.F., Lynch P.M. Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome). J Natl Cancer Inst 2007; 99: 261–3PubMedCrossRefGoogle Scholar
  21. 21.
    Lynch H.T., de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003; 348: 919–32PubMedCrossRefGoogle Scholar
  22. 22.
    Umar A., Boland C.R., Terdiman J.P. et al. Revised Bethesda Guidelines for hereditary non polyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261–8PubMedCrossRefGoogle Scholar
  23. 23.
    Syngal S., Fox E.A., Eng C., Kolodner R.D., Garber J.E. Sensitivity and specificity of clinical criteria for hereditary non polyposis colorectal cancer-associated mutations in MSH2 and MLH1. J Med Genet 2000; 37: 641–5PubMedCrossRefGoogle Scholar
  24. 24.
    Schischmanoff P.O., Lagorce C., Wind P., Benamouzig R. Le syndrome HNPCC (Hereditary Non Polyposis Colon Cancer). Diagnostic et prise en charge. Gastroenterol Clin Biol 2005; 29: 1028–34PubMedCrossRefGoogle Scholar
  25. 25.
    Hampel H., Frankel W.L., Martin E. et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352: 1851–60PubMedCrossRefGoogle Scholar
  26. 26.
    Olschwang S., Bonaiti C., Feingold J. et al. Identification et prise en charge du syndrome HNPCC (hereditary non polyposis colon cancer). Bull Cancer 2004; 91: 303–15PubMedGoogle Scholar
  27. 27.
    De Felice C., Gentile M., Barducci A. et al. Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer. Gut 2006; 55: 1436–9PubMedCrossRefGoogle Scholar
  28. 28.
    Olschwang S., Paraf F., Laurent-Puig P. et al. Contributions récentes pour l’identification et le dépistage du syndrome de Lynch. Gastroenterol Clin Biol 2007; 31: 136–40PubMedCrossRefGoogle Scholar
  29. 29.
    Fridrichova I. New aspects in molecular diagnosis of Lynch syndrome (HNPCC). Cancer Biomark 2006; 2: 37–49PubMedGoogle Scholar
  30. 30.
    Hitchins M.P., Wong J.J., Suthers G. et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 2007; 356: 697–705PubMedCrossRefGoogle Scholar
  31. 31.
    Peltomaki P., Vasen H. Mutations associated with HNPCC predisposition-Update of ICGHNPCC/INSiGHT mutation database. Dis Markers 2004; 20: 269–76PubMedGoogle Scholar
  32. 32.
    Lagerstedt-Robinson K., Liu T., Vandrovcova J. et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007; 99: 291–9PubMedCrossRefGoogle Scholar
  33. 33.
    Lynch H.T., Lynch J.F. What the physician needs to know about Lynch syndrome: an update. Oncology (Williston. Park) 2005; 19: 455–63PubMedGoogle Scholar
  34. 34.
    Hampel H., Stephens J.A., Pukkala E. et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005; 129: 415–21PubMedGoogle Scholar
  35. 35.
    Vasen H.F., Moslein G., Alonso A. et al. Guidelines for the clinical management of Lynch syndrome (HNPCC). J Med Genet 2007; 44: 353–62PubMedCrossRefGoogle Scholar
  36. 36.
    Ramsey S.D., Clarke L., Etzioni R., Higashi M., Berry K., Urban N. Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer. Ann Intern Med 2001; 135: 577–88PubMedGoogle Scholar
  37. 37.
    Lindor N.M., Petersen G.M., Hadley D.W. et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006; 296: 1507–17PubMedCrossRefGoogle Scholar
  38. 38.
    Guimbaud R. Indications et intérêts de la consultation D’oncogénétique. Gastroenterol Clin Biol 2005; 29: 711–4PubMedCrossRefGoogle Scholar
  39. 39.
    Lindor N.M., Rabe K., Petersen G.M. et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005; 293: 1979–85PubMedCrossRefGoogle Scholar
  40. 40.
    Jarvinen H.J., Aarnio M., Mustonen H. et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000; 118: 829–34PubMedCrossRefGoogle Scholar
  41. 41.
    Kiesslich R., Neurath M.F. Dépistage et diagnostic précoce du cancer colorectal. Acta Endoscopica 2007; 37: 207–29CrossRefGoogle Scholar

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