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Quality colonoscopy and risk of interval cancer in Lynch syndrome

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International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

Purpose

Despite colonoscopic surveillance, Lynch syndrome patients develop colorectal cancer (CRC). Identification of modifiable factors has the potential to improve outcome of surveillance. The aims of this study were to determine (1) characteristics of patients with CRC, (2) endoscopic and histological features of these cancers, and (3) quality of the previous colonoscopy.

Methods

Approximately 2,200 medical reports from proven and obligate mutation carriers identified at the Dutch Lynch Syndrome Registry and two large hospitals were retrospectively analyzed for the presence of an interval cancer defined as CRC diagnosed within 24 months of previous colonoscopy.

Results

Thirty-one interval cancers were detected in 29 patients (median age of 52 [range 35–73]), after a median time of 17 months. All were MLH1 or MSH2 mutation carriers, and 39 % had a previous CRC. In patients without previous surgery for CRC, 84 % was proximally located. Of all interval cancers, 77 % were at local stage (T1–3N0Mx). In three patients (9 %) with an incomplete previous colonoscopy, CRC was located in the unexamined colon. In six of the nine patients with an adenoma during previous colonoscopy, the cancer was detected in the same colonic segment as the previously removed adenoma.

Conclusions

Interval cancers were detected in MLH1 and MSH2 mutation carriers, especially in those with a history of previous CRC and between 40 and 60 years. Interval cancer could be related to incompleteness of previous endoscopy and possibly residual adenomatous tissue. Further reduction of the interval cancer risk may be achieved by optimizing endoscopy quality and individualization of surveillance guidelines.

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References

  1. Boyle P, Ferlay J (2005) Cancer incidence and mortality in Europe 2004. Ann Oncol 16:481–8

    Article  PubMed  CAS  Google Scholar 

  2. Lemmens VEPP, Coeberg JWW (2006) Epidemiologie van colorectale tumoren. IKR Bulletin 30:4–7

    Google Scholar 

  3. Hampel H, Frankel WL, Martin E et al (2005) Screening for the Lynch syndrome (hereditary non polyposis colorectal carcinoma). N Engl J Med 352:1851–1860

    Article  PubMed  CAS  Google Scholar 

  4. Lynch HT, Lynch PM, Lanspa SJ et al (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76:1–18

    Article  PubMed  CAS  Google Scholar 

  5. Hampel H, Frankel WL, Martin E et al (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26:5783–5788

    Article  PubMed  Google Scholar 

  6. Vasen HF, Wijnen JT, Menko FH et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020–1027

    Article  PubMed  CAS  Google Scholar 

  7. Koornstra JJ, Mourits MJ, Sijmons RH et al (2009) Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncol 10:400–408

    Article  PubMed  CAS  Google Scholar 

  8. Fitzgibbons RJ Jr, Lynch HT, Stanislav GV et al (1987) Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg 206:289–295

    Article  PubMed  Google Scholar 

  9. Shashidharan M, Smyrk T, Lin KM et al (1999) Histologic comparison of hereditary nonpolyposis colorectal cancer associated with MSH2 and MLH1 and colorectal cancer from the general population. Dis Colon Rectum 42:722–726

    Article  PubMed  CAS  Google Scholar 

  10. Lindor NM, Petersen GM, Hadley DW et al (2006) Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 296:1507–1517

    Article  PubMed  CAS  Google Scholar 

  11. Vasen HF, Abdirahman M, Brohet R et al (2010) One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 138:2300–2306

    Article  PubMed  Google Scholar 

  12. de Jong AE, Hendriks YM, Kleibeuker JH et al (2006) Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 130:665–671

    Article  PubMed  Google Scholar 

  13. Jarvinen HJ, Aarnio M, Mustonen H et al (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118:829–834

    Article  PubMed  CAS  Google Scholar 

  14. Renkonen-Sinisalo L, Aarnio M, Mecklin JP et al (2000) Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 24:137–142

    PubMed  CAS  Google Scholar 

  15. Mecklin JP, Aarnio M, Laara E et al (2007) Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 133:1093–1098

    Article  PubMed  Google Scholar 

  16. Engel C, Rahner N, Schulmann K et al (2010) Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 8:174–182

    Article  PubMed  Google Scholar 

  17. Stuckless S, Green JS, Morgenstern M et al (2012) Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation. Clin Genet 82:439–445

    Article  PubMed  CAS  Google Scholar 

  18. de Jong AE, Nagengast FM, Kleibeuker JH et al (2006) What is the appropriate screening protocol in Lynch syndrome? Fam Cancer 5:373–378

    Article  PubMed  Google Scholar 

  19. Vasen HF, den Hartog Jager FC, Menko FH et al (1989) Screening for hereditary non-polyposis colorectal cancer: a study of 22 kindreds in the Netherlands. Am J Med 86:278–281

    Article  PubMed  CAS  Google Scholar 

  20. Plaschke J, Engel C, Kruger S et al (2004) 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 22:4486–4494

    Article  PubMed  CAS  Google Scholar 

  21. Ramsoekh D, Wagner A, van Leerdam ME et al (2009) Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract 7:17

    Article  PubMed  Google Scholar 

  22. Jass JR (2000) Pathology of hereditary nonpolyposis colorectal cancer. Ann N Y Acad Sci 910:62–73

    Article  PubMed  CAS  Google Scholar 

  23. Vasen HF, Nagengast FM, Khan PM (1995) Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 345:1183–1184

    Article  PubMed  CAS  Google Scholar 

  24. de Jong AE, Morreau H, van Puijenbroek M et al (2004) The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 126:42–48

    Article  PubMed  Google Scholar 

  25. Rijcken FE, Hollema H, Kleibeuker JH (2002) Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 50:382–386

    Article  PubMed  CAS  Google Scholar 

  26. Rondagh EJ, Bouwens MW, Riedl RG et al (2012) Endoscopic appearance of proximal colorectal neoplasms and potential implications for colonoscopy in cancer prevention. Gastrointest Endosc 75:1218–1225

    Article  PubMed  Google Scholar 

  27. le Clercq C, Rondagh E, Riedl R et al (2011) Interval colorectal cancers frequently have subtle macroscopic appearance: a 10 year-experience in an academic center. Gastroenterology 140:S112–S113

    Google Scholar 

  28. Thuraisingam AI, Brown JL, Anderson JT (2008) What are the sensitivity and specificity of endoscopic photographs in determining completion of colonoscopy? Results from an online questionnaire. Eur J Gastroenterol Hepatol 20:567–571

    Article  PubMed  Google Scholar 

  29. Powell N, Knight H, Dunn J et al (2011) Images of the terminal ileum are more convincing than cecal images for verifying the extent of colonoscopy. Endoscopy 43:196–201

    Article  PubMed  CAS  Google Scholar 

  30. van Vugt van Pinxteren MW, van Kouwen MC, van Oijen MG et al (2012) A prospective study of bowel preparation for colonoscopy with polyethylene glycol-electrolyte solution versus sodium phosphate in Lynch syndrome: a randomized trial. Fam Cancer 11:337–341

  31. Chai H, Brown RE (2009) Field effect in cancer—an update. Ann Clin Lab Sci 39:331–7

    PubMed  CAS  Google Scholar 

  32. Rex DK (2006) Maximizing detection of adenomas and cancers during colonoscopy. Am J Gastroenterol 101:2866–2877

    Article  PubMed  Google Scholar 

  33. Vasen HFA, Blanco I, Aktan-Collan K et al (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62:812–823. doi:10.1136/gutjnl-2012-304356

    Article  PubMed  CAS  Google Scholar 

  34. Haanstra JF, de Vos Tot Nederveen Cappel WH, Gopie JP et al (2012) Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. Dis Colon Rectum 55:653–9

    Article  PubMed  Google Scholar 

  35. Lai EJ, Calcerwood AH, Doros G et al (2009) The Boston bowel preparation scale: a valid and reliable instrument for colonoscopy-oriented research. Gastrointest Endosc 69:620–625

    Article  PubMed  Google Scholar 

  36. Brown SR, Baraza W (2010) Chromoscopy versus conventional endoscopy for the detection of polyps in the colon and rectum. Cochrane Database Syst Rev 10, CD006439

    PubMed  Google Scholar 

  37. Huneburg R, Lammert F, Rabe C et al (2009) Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening. Endoscopy 41:316–322

    Article  PubMed  CAS  Google Scholar 

  38. Hurlstone DP, Karajeh M, Cross SS et al (2005) The role of high-magnification-chromoscopic colonoscopy in hereditary nonpolyposis colorectal cancer screening: a prospective “back-to-back” endoscopic study. Am J Gastroenterol 100:2167–2173

    Article  PubMed  Google Scholar 

  39. Lecomte T, Cellier C, Meatchi T et al (2005) Chromoendoscopic colonocopy for detection preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndrome. Clin Gastroenterol Hepatol 3:897–902

    Article  PubMed  Google Scholar 

  40. Stoffel EM, Turgeon DK, Stockwell DH et al (2008) Chromoendoscopy detects more adenomas than colonoscopy using intensive inspection without dye spraying. Cancer Prev Res (Phila) 1:507–513

    Article  Google Scholar 

  41. Stoffel EM, Turgeon DK, Stockwell DH et al (2008) Missed adenomas during colonoscopic surveillance in individuals with Lynch syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila) 1:470–475

    Article  Google Scholar 

  42. Haanstra JF, Kleibeuker JH, Koornstra JJ (2013) Role of new endoscopic techniques in Lynch syndrome. Fam Canc. doi:10.007/s10689-013-9610-6

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, Netherlands

    J. F. Haanstra, E. J. van der Wouden & W. H. de Vos tot Nederveen Cappel

  2. Netherlands Foundation for the Detection of Hereditary Tumors (NFDHT), Leiden, Netherlands

    H. F. A. Vasen

  3. Department of Gastroenterology and Hepatology, Maastricht University Medical Center, Maastricht, Netherlands

    S. Sanduleanu

  4. Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, P.O. box 30001, 9700RB, Groningen, Netherlands

    J. F. Haanstra, J J. Koornstra & J. H. Kleibeuker

  5. Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, Netherlands

    H. F. A. Vasen

Authors
  1. J. F. Haanstra
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  2. H. F. A. Vasen
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  3. S. Sanduleanu
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  4. E. J. van der Wouden
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  5. J J. Koornstra
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  6. J. H. Kleibeuker
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  7. W. H. de Vos tot Nederveen Cappel
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Correspondence to J. F. Haanstra.

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Haanstra, J.F., Vasen, H.F.A., Sanduleanu, S. et al. Quality colonoscopy and risk of interval cancer in Lynch syndrome. Int J Colorectal Dis 28, 1643–1649 (2013). https://doi.org/10.1007/s00384-013-1745-2

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  • DOI: https://doi.org/10.1007/s00384-013-1745-2

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