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Identification and Classification of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Adapting Old Concepts to Recent Advancements. Report from the Italian Association for the Study of Hereditary Colorectal Tumors Consensus Group

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Diseases of the Colon & Rectum

Abstract

Knowledge about hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome clearly evolved during the last 10 to 15 years much more rapidly than in the past century. Consequently, long-established concepts and attitudes that held for many years should now be changed or updated. With regard to classification, we suggest maintaining the eponym “Lynch syndrome” for families that have a well-documented deficiency of the DNA mismatch repair system, whereas “clinical hereditary nonpolyposis colorectal cancer” should be reserved for those families that meet the Amsterdam criteria but without evidence of mismatch repair impairment. Any family (or individual) meeting one or more of the Bethesda criteria can be considered as suspected HNPCC. For the identification of hereditary colorectal cancer molecular screening or the pedigree analysis show advantages and disadvantages; the ideal would be to combine the two approaches. Diffusion of the microsatellite instability test and of immunohistochemistry in the pathology laboratories might render in the immediate future molecular screening more realistic. Strict endoscopic surveillance of family members at risk (with first colonoscopy at age 20–25 years and then every 2–3 years) is needed only in families with documented alterations of the DNA mismatch repair. To a certain extent, our conclusions were similar to the recently proposed “European guidelines for the clinical management of HNPCC,” although we prefer the term “clinical hereditary nonpolyposis colorectal cancer,” instead of familial colorectal cancer, for families meeting the Amsterdam criteria but not having evidence of mismatch repair impairment.

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Authors and Affiliations

  1. Dipartimento di Medicine e Specialità Mediche, Università di Modena e Reggio Emilia, Via del Pozzo 71, 41100, Modena, Italy

    Maurizio Ponz de Leon M.D.

  2. Unità SS Tumori Ereditari Colorettali, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milano, Italy

    Lucio Bertario M.D.

  3. Sezione Genetica Medica, Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, Italy

    Maurizio Genuardi M.D.

  4. Dipartimento di Patologia e Oncologia, Unità Operativa di Anatomia Patologica, Arcispedale S. Anna, Azienda Ospedaliera, Universitaria di Ferrara, Ferrara, Italy

    Giovanni Lanza M.D.

  5. Divisione Clinicizzata di Oncologia Medica, Azienda Ospedaliera e Università degli Studi di Verona, Verona, Italy

    Cristina Oliani M.D.

  6. Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy

    Guglielmina Nadia Ranzani Ph.D.

  7. Dipartimento di Chirurgia - UOC di Diagnostica e Terapia Endoscopica, Istituto Nazionale dei Tumori di Napoli - Fondazione G.Pascale, Napoli, Italy

    Giovanni Battista Rossi M.D.

  8. S.S. Centro Tumori Ereditari, Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy

    Liliana Varesco M.D.

  9. Unità di Patologia, Istituto per la Ricerca e la Cura del Cancro, Candiolo, Italy

    Tiziana Venesio Ph.D.

  10. Oncologia Sperimentale 1, Dipartimento di Ricerca ed Epidemiologia Preclinica, Centro Riferimento Oncologico-IRCCS, Aviano, Italy

    Alessandra Viel Ph.D.

Authors
  1. Maurizio Ponz de Leon M.D.
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  2. Lucio Bertario M.D.
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  3. Maurizio Genuardi M.D.
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  4. Giovanni Lanza M.D.
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  5. Cristina Oliani M.D.
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  6. Guglielmina Nadia Ranzani Ph.D.
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  7. Giovanni Battista Rossi M.D.
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  8. Liliana Varesco M.D.
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  9. Tiziana Venesio Ph.D.
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  10. Alessandra Viel Ph.D.
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Correspondence to Maurizio Ponz de Leon M.D..

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Ponz de Leon, M., Bertario, L., Genuardi, M. et al. Identification and Classification of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Adapting Old Concepts to Recent Advancements. Report from the Italian Association for the Study of Hereditary Colorectal Tumors Consensus Group. Dis Colon Rectum 50, 2126–2134 (2007). https://doi.org/10.1007/s10350-007-9071-9

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  • DOI: https://doi.org/10.1007/s10350-007-9071-9

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