Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
| Autor: | Mev Dominguez-Valentin, Lone Sunde, John-Paul Plazzer, Nils Rahner, Deepak Vangala, Robert Hüneburg, Douglas Tjandra, Verena Steinke-Lange, Ignacio Blanco, Rodney J. Scott, Lior H. Katz, Christoph Engel, Inge Bernstein, Matthias Kloor, Maartje Nielsen, John Burn, Toni T. Seppälä, Wolff Schmiegel, Karl Heinimann, Eivind Hovig, Fiona Lalloo, Stefan Aretz, D. Gareth Evans, Emma J Crosbie, Elke Holinski-Feder, James Hill, Gabriela Möslein, Ken Ljungmann, Marta Pineda, Noralane M. Lindor, Huw Thomas, Aysel Ahadova, Florencia Neffa, Julian R. Sampson, Ian M. Frayling, Pål Møller, Laura Renkonen-Sinisalo, Anna Lepistö, Jukka-Pekka Mecklin, Kate Green, Finlay A. Macrae, Monika Morak, Ingrid Winship, Nathan Gluck, Adriana Della Valle, Hans F. A. Vasen, Annika Lindblom, Charlotte Kvist Lautrup, Sanne W. ten Broeke, Matilde Navarro, Christina Therkildsen, Mette Kalager, Sigve Nakken, Stefanie Holzapfel, Gabriel Capellá, Kirsi Pylvänäinen, Wouter H. de Vos tot Nederveen Cappel |
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| Přispěvatelé: | Clinicum, University of Helsinki, Department of Surgery, II kirurgian klinikka, HUS Abdominal Center |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
COLONOSCOPIC SURVEILLANCE Colorectal cancer Colonoscopy 030105 genetics & heredity computer.software_genre FAMILIES COLORECTAL-CANCER Breast cancer screening 0302 clinical medicine 610 Medical sciences Medicine Epidemiology tähystys Stage (cooking) Hereditary nonpolyposis colorectal cancer MUTATION Genetics (clinical) RISK Surveillance Database medicine.diagnostic_test Incidence (epidemiology) lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Lynch syndrome 3. Good health Oncology 030220 oncology & carcinogenesis endoskopia Screening syöpätaudit koloskopia medicine.medical_specialty lcsh:QH426-470 3122 Cancers suolistosyövät mikrosatelliitit lcsh:RC254-282 Mismatch repair 03 medical and health sciences Càncer colorectal medicine Endoscòpia Lynchin oireyhtymä perinnölliset taudit seulontatutkimus business.industry Research Colonoscòpia Microsatellite instability Endoscopy DNA diagnostiikka medicine.disease digestive system diseases Hereditary cancer ADENOMA lcsh:Genetics Over-diagnosis tarkkailu business computer |
| Zdroj: | Seppala, T T, Ahadova, A, Dominguez-Valentin, M, Macrae, F, Evans, D G, Therkildsen, C, Sampson, J, Scott, R, Burn, J, Moeslein, G, Bernstein, I, Holinski-Feder, E, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Lautrup, C K, Lindblom, A, Plazzer, J-P, Winship, I, Tjandra, D, Katz, L H, Aretz, S, Hueneburg, R, Holzapfel, S, Heinimann, K, Della Valle, A, Neffa, F, Gluck, N, Cappel, W H D V T N, Vasen, H, Morak, M, Steinke-Lange, V, Engel, C, Rahner, N, Schmiegel, W, Vangala, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Blanco, I, ten Broeke, S, Nielsen, M, Ljungmann, K, Nakken, S, Lindor, N, Frayling, I M, Hovig, E, Sunde, L, Kloor, M, Mecklin, J-P, Kalager, M & Møller, P 2019, ' Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, 8 . https://doi.org/10.1186/s13053-019-0106-8 Seppälä, T T, Ahadova, A, Dominguez-Valentin, M, Macrae, F, Evans, D G, Therkildsen, C, Sampson, J, Scott, R, Burn, J, Möslein, G, Bernstein, I, Holinski-Feder, E, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lautrup, C K, Lindblom, A, Plazzer, J P, Winship, I, Tjandra, D, Katz, L H, Aretz, S, Hüneburg, R, Holzapfel, S, Heinimann, K, Valle, A D, Neffa, F, Gluck, N, De Vos Tot Nederveen Cappel, W H, Vasen, H, Morak, M, Steinke-Lange, V, Engel, C, Rahner, N, Schmiegel, W, Vangala, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Blanco, I, Ten Broeke, S, Nielsen, M, Ljungmann, K, Nakken, S, Lindor, N, Frayling, I, Hovig, E, Sunde, L, Kloor, M, Mecklin, J P, Kalager, M & Møller, P 2019, ' Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; A prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, no. 1, 8, pp. 1-8 . https://doi.org/10.1186/s13053-019-0106-8 Hereditary Cancer in Clinical Practice Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-8 (2019) Hereditary cancer in clinical practice, 17:8. BioMed Central Ltd. Hereditary Cancer in Clinical Practice, 17. BMC Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis : a Prospective Lynch Syndrome Database report ', Hereditary cancer in clinical practice . https://doi.org/10.1186/s13053-019-0106-8 Dipòsit Digital de la UB Universidad de Barcelona |
| ISSN: | 1731-2302 1897-4287 |
| DOI: | 10.1186/s13053-019-0106-8 |
| Popis: | Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. Methods To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance. Path_MMR carriers were recruited for prospective surveillance by colonoscopy. Only variants scored by the InSiGHT Variant Interpretation Committee as class 4 and 5 (clinically actionable) were included. CRCs detected at the first planned colonoscopy, or within one year of this, were excluded as prevalent cancers. Results Stage at diagnosis and interval between last prospective surveillance colonoscopy and diagnosis were available for 209 patients with 218 CRCs, including 162 path_MLH1, 45 path_MSH2, 10 path_MSH6 and 1 path_PMS2 carriers. The numbers of cancers detected within 3.5 years since last colonoscopy were 36, 93, 56 and 33, respectively. Among these, 16.7, 19.4, 9.9 and 15.1% were stage III–IV, respectively (p = 0.34). The cancers detected more than 2.5 years after the last colonoscopy were not more advanced than those diagnosed earlier (p = 0.14). Conclusions The CRC stage and interval since last colonoscopy were not correlated, which is in conflict with the accelerated adenoma-carcinoma paradigm. We have previously reported that more frequent colonoscopy is not associated with lower incidence of CRC in path_MMR carriers as was expected. In contrast, point estimates showed a higher incidence with shorter intervals between examinations, a situation that may parallel to over-diagnosis in breast cancer screening. Our findings raise the possibility that some CRCs in path_MMR carriers may spontaneously disappear: the host immune response may not only remove CRC precursor lesions in path_MMR carriers, but may remove infiltrating cancers as well. If confirmed, our suggested interpretation will have a bearing on surveillance policy for path_MMR carriers. |
| Databáze: | OpenAIRE |
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