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Surveillance des sujets à risque très élevé de cancer colorectal (polyposes, cancer colique héréditaire sans polypose)

Surveillance of very high-risk subjects (polyposis, hereditary nonpolyposis colorectal cancer)

  • Published:
Acta Endoscopica

Résumé

Outre le risque spontané de cancer colique que présente la population générale française, avec pour facteur commun l'âge croissant, certaines personnes ont un surcroît de risque par héritage de prédispositions génétiques (inscrites dans l'ADN constitutionnel). Des critères consensuels permettent de délimiter trois catégories de risque (général ou banal, élevé, très élevé), auxquelles correspondent des mesures de dépistage et de surveillance spécifiques. Dans la catégorie du risque très élevé, des diagnostics moléculaires sont envisageables. Ceux-ci constituent le support de diagnostics prédictifs chez les membres asympomatiques des familles à risque. Ces diagnostics font donc partie des recommandations diagnostiques, puis influencent les conseils de surveillance, en particulier quand des relations existent entre le génotype et l'expression phénotypique des prédispositions. Le défaut de sensibilité et de spécificité des critères cliniques d'indication des diagnostics génétiques rend compte de l'utilité de critères biologiques complémentaires (lisibles dans l'ADN somatique, recherche d'instabilité des microsatellites). Les recommandations de surveillance sont liées à l'expressivité et à la pénétrance des polyposes adénomateuses et des syndromes HNPCC. Elles sont mises à jour en fonction des descriptions épidémiologiques établies en fonction des diagnostics génotypiques.

Summary

The French general population shares a common risk of colorectal cancer, which is influenced by environmental factors and life-long duration of exposition to such risks. In addition, some individuals are at increased risk, due to inherited germline mutations, as in Familial Adenoma Polyposes and Hereditary Non Polyposis Colorectal Cancer syndromes. Clinical and biological criteria have been proposed to determine three categories of risk (general, high, and very high risks). In addition to medical recommendations for screening and surveillance, predictive molecular diagnoses are available which help the selection of risk carriers, and also provide more accurate epidemiological descriptions of expressivity and penetrance of such inherited syndromes.

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Abbreviations

FAP :

Familial Adenomatous Polyposis (Polypose adénomateuse familiale)

HNPCC :

Hereditary NonPolyposis Colorectal Cancer (ou Syndrome de Lynch)

APC :

Nom du gène impliqué dans les FAP/name of the gene involved in FAP (Adenomatous Polyposis Coli)

AAPC :

Polypose adénomateuse atténuée (attenuated adenomatous polyposis)

MMR :

Mismatch Repair (nom de la famille de gènes codant pour des protéines de réparation des défauts spontanés d'appariement des acides nucléiques, lors de la réplication de l'ADN cellulaire). Les gènes MMR sont impliqués dans la transmission héréditaire des syndromes HNPCC, dont les tumeurs ont un phénotype instable caractéristique dit RER ou MSI (instabilité nucléotidique)name of the family of genes that codes for proteins repairing spontaneous defects in nucleic acid pairing, during cellular DNA replication). The MMR genes are involved in the hereditary transmission of HNPCC

RER :

Replication Error

MSI :

Microsatellite Instability

PCR :

Polymerase Chain Reaction

Références

  1. ANAES—Jury Conférence Consensus. Prévention, dépistage et prise en charge des cancers du côlon.Gastroentérol. Clin. Biol., 1998,22, S275-S288.

    Google Scholar 

  2. BENHAMICHE A.-M.—Cancer du côlon: épidémiologie descriptive et groupes à risque élevé.Gastroentérol. Clin. Biol., 1998,22, S3-S11.

    PubMed  CAS  Google Scholar 

  3. OLSCHWANG S., LAURENT-PIG P.—Stratégie de surveillance des sujets à risque élevé ou très élevé de cancer colorectal.Gastroentérol. Clin. Biol., 1998,22, S40-S43.

    PubMed  CAS  Google Scholar 

  4. VASEN H.F.A., WATSON P., MECKLIN J.-P., LYNCH H.T., and the ICG-HNPCC—New Clinical Criteria for Hereditary Nonpolyposis Colorectal Cancer (HNPCC, Lynch Syndrome) Proposed by the International Collaborative Group on HNPCC.Gastroenterology, 1999, 116, 1453–1456.

    Article  PubMed  CAS  Google Scholar 

  5. WEBER T.—Clinical surveillance recommendations adopted for HNPCC.Lancet, 1996,348, 465.

    Article  Google Scholar 

  6. AALTONEN L.A., SALOVAARA R., KRISTO P., CANZIAN F., HEMMINKI A., PELTOMÄKI P.et al.—Incidence of Hereditary Non Polyposis Colorectal Cancer and the feasibility of molecular screening of the disease.N. Engl. J. Med., 1998,338, 1481–1487.

    Article  PubMed  CAS  Google Scholar 

  7. LOUKOLA A., DE LA CHAPELLE A., AALTONEN L.— Strategies to screen for hereditary non polyposis colorectal cancer.J. Med. Genet., 1999,36, 819–822.

    PubMed  CAS  Google Scholar 

  8. LOUKOLA A., EKLIN K., LAIHO P., SALOVAARA R., KRISTO P., JÄRVINEN H.et al.—Microsatellite marker analysis in screening for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).Cancer Res., 2001,61, 455–459.

    Google Scholar 

  9. TERDIMAN J.P., GUM J.R., CONRAD P.G., MILLER G.A., WEINBERG V., CRAWLEY S.C.et al.—Efficient dectection of Hereditary Nonpolyposis Colorectal Cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.Gastroenterology, 2001,120, 21–30.

    Article  PubMed  CAS  Google Scholar 

  10. KATBALLE N., CHRISTENSEN M., WIKMAN F., ØRNTOFT T., LAURBERG S.—Frequency of Hereditary Non-Polyposis Colorectal Cancer in Danish colorectal cancer patients.Gut, 2002,50, 43–51.

    Article  PubMed  CAS  Google Scholar 

  11. LINDOR N., BURGART L., LEONTOVICH O., GOLDBERG R., CUNNIGHAM J., SARGENT D.et al.—Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors.J. Clin. Oncol., 2002,20, 1043–1048.

    Article  PubMed  CAS  Google Scholar 

  12. MOISIO A.-L., JÄRVINEN H., PELTOMÄKI P.—Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.Gut, 2002,50, 845–850.

    Article  PubMed  CAS  Google Scholar 

  13. LEGGETT B., YOUNG J., BIDEN K., BUTTENSHAW R., KNIGHT N., COWEN A.—Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520.Gut, 1997,41, 518–521.

    Article  PubMed  CAS  Google Scholar 

  14. WALLACE M.H., FRAYLING I.M., CLARK S.K., NEALE K., PHILLIPS R.K.—Attenuated adenomatous polyposis coli: the role of ascertainment bias through failure to dye-spray at colonoscopy.Dis. Colon Rectum, 1999,42, 1087–1090.

    Article  Google Scholar 

  15. IINO H., SIMMS L., ARNOLD J., WINSHIP I., WEBB S., FURLONG K.et al.—DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary nonpolyposis colorectal cancer.Gut, 2000,47, 37–42.

    Article  PubMed  CAS  Google Scholar 

  16. GIARDIELLO F.M., BRENSINGER J.D., PETERSEN G.M., LUCE MC, HYLIND L.M., BACON J.A.et al.—The use and interpretation of commercial APC gene testing for familial adenomatous polyposis.N. Engl. J. Med., 1997,336, 823–827.

    Article  PubMed  CAS  Google Scholar 

  17. BOGNEL C., GRANDJOUAN S.—Les adénomes plans et autres polypes dysplasiques plans du côlon.Gastroentérol. Clin. Biol., 1999,23, 837–851.

    PubMed  CAS  Google Scholar 

  18. BURT R.W.—Colon Cancer Screening.Gastroenterology, 2000,119, 837–853.

    Article  PubMed  CAS  Google Scholar 

  19. BERENDS M., WU Y., SIJMONS R., MENSINK R., VAN DER SLUIS T., HORDIJK-HOS J.et al.—Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.Am. J. Hum. Genet., 2002,70, 26–37.

    Article  PubMed  CAS  Google Scholar 

  20. SALOVAARA R., LOUKOLA A., KRISTO P., KÄÄRIÄINEN H., AHTOLA H., ESKELINEN M.et al.—Population-based molecular detection of Hereditary Nonpolyposis Colorectal Cancer.J. Clin. Oncol., 2000,18, 2193–2200.

    PubMed  CAS  Google Scholar 

  21. WAHLBERT S., SCHMEITS J., THOMAS G., LODA M., GARGER J., SYNGAL S.et al.—Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-lineMSH2 andMLH1 mutations in Hereditary Nonpolyposis Colon Cancer Families.Cancer Res., 2002,62, 3845–3492.

    Google Scholar 

  22. BOLAND C.R., THIBODEAU S.N., HAMILTON S.R., SIDRANSKY D., ESHLEMAN J.R., BURT R.W.et al.— National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criterial for the determination of microsatellite instability in colorectal cancer.Cancer Res., 1998,58, 5248–5257.

    PubMed  CAS  Google Scholar 

  23. DE LA CHAPELLE A.—Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out.J. Clin. Oncol., 2002,20, 897–899.

    Google Scholar 

  24. BÜLOW C., VASEN H., JÄRVINEN H., BJÖRK J., BISGAARD M.L., BÜLLOW S.—Ileorectal anastomosis is appropriate for a subset of patients with Familial Adenomatous Polyposis.Gastroenterology, 2000,119, 1454–1460.

    Article  PubMed  Google Scholar 

  25. VASEN H.F.A., VAN DER LUIJT R.B., SLORS J.F.M., BSKENS E., DE RUITER P., BAETEN C.G.M.et al.— Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis.Lancet, 1996,348, 433–435.

    Article  PubMed  CAS  Google Scholar 

  26. BERTONI G., SASSA TELLI R., NIGRISOLI E., TANSINI P., RONCUCCI L., PONZ DE LEON M.et al.—First Observation of Microadenomas in the Ileal Mucosa of Patients With Familial Adenomatous Polyposis and Colectomies.Gastroenterology, 1995,109, 374–380.

    Article  PubMed  CAS  Google Scholar 

  27. SPIGELMAN A., WILLIAMS C., TALBOT I., DOMIZIO P., PHILLIPS R.—Upper gastrointestinal cancer in patients with familial adenomatous polyposis.Lancet, 1989,ii, 783–785.

    Article  Google Scholar 

  28. VASEN H.F.A., BÜLOW, MYRHØJ T., MATHUS-VLIEGEN L., GRIFFIOEN G., BUSKENS E.et al.—Decision analysis in the management of duodenal adenomatosis in familial adenomatous polyposis.Gut. 1997,40, 716–719.

    Article  PubMed  CAS  Google Scholar 

  29. DUNLOP M.—Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familal adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome.Gut, 2002,51, v21-v27.

    Article  PubMed  Google Scholar 

  30. BJÖRK J., AKERBRANT H., ISELIUS L., BERGMAN A., ENGWALL Y., WAHLSTRÖM J.et al.—Periampullary adenomas and adenocarcinomas in Familial Adenomatous Polyposis: cumulative risks andAPC gene mutations.Gastroenterology, 2001, 121.

  31. BURKE C.—Risk stratification for periampullary carcinoma in patients with Familial Adenomatous Polyposis: does Theodore know what to do now?Gastroenterology, 2001,121, 1246–1248.

    Article  PubMed  CAS  Google Scholar 

  32. PENNA C., BATAILLE N., BALLADUR P., TIRET E., PARC R.—Surgical treatment of severe duodenal polyposis in familial adnomatous polyposis.Br. J. Surg., 1998,84, 948–951.

    Google Scholar 

  33. LABAYLE D., FISCHER D., VIEHL P.et al.—Sulindac causes regression of rectal polyps in familial adenomatous polyposis.Gastroenterology, 1991,101, 635–639.

    PubMed  CAS  Google Scholar 

  34. LYNCH H.T.—Rectal cancer after prolonged Sunlindac chemoprevention.Cancer, 1995,75, 936–938.

    Article  PubMed  CAS  Google Scholar 

  35. STEINBACH G., LYNCH P.M., PHILLIPS R.K., WALLACE M.H., HAWK E., GORDON G.B.et al.—The effect of Celecoxib, a cyclooxygenase-2 inhibitor, in Familial Adenomatous Polyposis.N. Engl. J. Med., 2000,342, 1946–1952.

    Article  PubMed  CAS  Google Scholar 

  36. GIARDIELLO F.M., YANG V.W., HYLIND L.M., KRUSH A.J., PETRERSEN G.M., TRIMBATH J.D.et al.— Primary chemoprevention of familial adenomatous polyposis with Sunlindac.N. Engl. J. Med., 2002,346, 1054–1059.

    Article  PubMed  CAS  Google Scholar 

  37. WU G.D.—A nuclear receptor to prevent colon cancer.N. Engl. J. Med., 2000,342, 651–653.

    Article  PubMed  CAS  Google Scholar 

  38. GIARDIELLO F.M., KRUSH A.J., PETERSEN G.M., BOOKER S.V., KERR M., LI TONG L.et al.—Phenotypic Variability of Familial Adenomatous Polyposis in 11 Unrelated Families With IdenticalAPC Gene Mutation.Gastroenterology, 1994,106, 1542–1547.

    PubMed  CAS  Google Scholar 

  39. HOULSTON R., CRABTREE M., PHILLIPS R., TOMLINSON I. —Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes.Gut. 2001,48, 1–5.

    Article  PubMed  CAS  Google Scholar 

  40. HAMILTON S.R., LIO B., PARSONS R.E., PAPADOPOULOS N., JEN J., POWELL S.M.et al.—The molecular basis of Turcot's Syndrome.N. Engl. J. Med., 1995,332, 939–947.

    Article  Google Scholar 

  41. AARNIO M., SANKILA R., PUKKALA E., SALOVAARA R., AALTONEN L.A., DE LA CHAPELLE A.et al. —Cancer risk in mutation carriers of DNA-mismatchrepair genes.Int. J. Cancer, 1999,81, 214–218.

    Article  PubMed  CAS  Google Scholar 

  42. VASEN H., STOMORKEN A., MENKO F., NAGENGAST F., KLEIBEUKER J., GRIFFIOEN G.et al.—MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of Hereditary Nonpolyposis Colorectal Cancer families.J. Clin. Oncol., 2001,19, 4074–4080.

    PubMed  CAS  Google Scholar 

  43. PARC Y., BOISSON C., THOMAS G., OLSCHWANG S.— Cancer risk in 348 french MSH2 or MLH1 gene carriers. J. Med. Genet accepted, sept 2002.

  44. VASEN H.F., WATSON P., MECKLIN J.-P., JASS J.R., GREEN J.S., NOMIZU T.et al.—The epidemiology of endometrial cancer in Hereditary Non polyposis Colorectal Cancer. Anticancer Research, 1994,14, 1675–1678.

    PubMed  CAS  Google Scholar 

  45. JÄGER A., BISGAARD M., MYRHØJ T., BERNSTEIN I., REHFELD J., NIELSEN F.—Reduced frequency of extracolonic cancers in Hereditary Nonpolyposis Colorectal Cancer families with monoallelic hMLH1 expression.Am. J. Hum. Genet., 1997,61, 129–138.

    Article  PubMed  Google Scholar 

  46. VASEN H.F.A., WIJNEN J.T., MENKO F.H., KLEIBEUKER J.H., TAAL B.G., GRIFFIOEN G.et al.—Cancer Risk in Families With Hereditary Nonpolyposis Colorectal Cancer Diagnosed by Mutation Analysis.Gastroenterology, 1996,110, 1020–1027.

    Article  PubMed  CAS  Google Scholar 

  47. GRANDJOUAN S.—Association cancers digestifs et cancers gynécologiques. Prédispositons génétiques. Prise en charge des patientes à risque.Reprod. Hum. et Horm., 2001,14, 589–600.

    Google Scholar 

  48. HALL N.R., MURDAY V.A., CHAPMAN P., WILLIAMS M.A.T., BURN J., FINAN P.J.et al.—Genetic Linkage in Muir-Torre Syndrome to the Same Chromosomal Region as Cancer Family Syndrome.Eur. J. Cancer, 1994,30A, 180–182.

    Article  PubMed  CAS  Google Scholar 

  49. DORE M., DIEUMEGARD B., GRANDJOUAN S., AVRIL M., MARTINET C., DUCREUX M.et al.—Muir-Torre syndrome and familial colorectal cancer: two families with molecular genetic analysis.Ann. Dermatol. Venereol., 1999,126, 582–586.

    PubMed  CAS  Google Scholar 

  50. SANKILA R., AALTONEN L.A., JÄRVINEN K.J., MECKLIN J.-P. —Better Survival Rates in Patients withMLH1-Associated Hereditary Colorectal Cancer.Gastroenterology, 1996,110, 682–687.

    Article  PubMed  CAS  Google Scholar 

  51. LYNCH H.T.—Colorectal cancer, survival advantage, and hereditary nonpolyposis colorectal carcinoma.Gastroenterology, 1996,110, 943–954.

    Article  PubMed  CAS  Google Scholar 

  52. GRYFE R., KIM H., HISEH E.T., ARONSON M.D., HOLOQATY E.J., BULL S.B.et al.—Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer.N. Engl. J. Med., 2000,342, 69–77.

    Article  PubMed  CAS  Google Scholar 

  53. HEMMINKI A., MECKLIN J.-P., JÄRVINEN H., AALTONEN L.A., JOENSU H.—Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy.Gastroenterology, 2000,119, 921–928.

    Article  PubMed  CAS  Google Scholar 

  54. WATANABE T., WU T.-T., CATALANO P.J., UEKI T., SATRIANO R., HALLER D.G.et al.—Molecular predictors of survival after adjuvant chemotherapy for colon cancer.N. Engl. J. Med., 2001,344, 1196–1206.

    Article  PubMed  CAS  Google Scholar 

  55. HOWE J.R., MITROS F.A., SUMMERS R.W.—The risk of gastrointestinal carcinoma in Familial Juvenile Polyposis.Ann. Surg. Oncol., 1998,5, 751–756.

    Article  PubMed  CAS  Google Scholar 

  56. GIARDIELLO F.M., BRENSINGER J.D., TERSMETTE A.C., GOODMAN S.N., PETERSEN G.M., BOOKER S.V.et al.—Very high risk of cancer in familial Peutz-Jeghers Syndrome.Gastroenterology, 2000,119, 1447–1453.

    Article  PubMed  CAS  Google Scholar 

  57. ENTIUS M.M., WESTERMAN A.-M., VAN VELTHUYSEN M.-L.F., WILSON J.P., HAMILTON S.R., GIARDIELLO F.M.et al.—Molecular and Phenotypic Markers of Hamartomatous Polyposis Syndromes in the Gastrointestinal Tract.Hepato Gastroenterology, 1999,46, 661–666.

    PubMed  CAS  Google Scholar 

  58. KINZLER K.W., VOGELSTEIN B.—Landscaping the cancer terrain.Science, 1998,280, 1036–1037.

    Article  PubMed  CAS  Google Scholar 

  59. BOSMAN F.—The hamartoma-adenoma-carcinoma sequence.J. Pathol., 1999,188, 1–2.

    Article  PubMed  CAS  Google Scholar 

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  1. Consultation d'oncogénétique digestive, Service d'hépato-gastroentérologie, CHU Cochin, 27, rue du Faubourg Saint-Jacques, 75014, Paris, France

    Sophie Grandjouan

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Grandjouan, S. Surveillance des sujets à risque très élevé de cancer colorectal (polyposes, cancer colique héréditaire sans polypose). Acta Endosc 32, 633–653 (2002). https://doi.org/10.1007/BF03018872

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