On this episode of the SO files, Brad and Linda cover the genetic basis of Lynch syndrome, who should get screened, when patients should get surveillance, and go over two recent papers covering surgical options for colon cancer in Lynch as well as long term outcomes after resection. Then, we discuss current management with Dr. Paul Wise, Professor of Surgery and Director of the Washington University Inherited Colorectal Cancer and Polyposis Registry.
Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A; EPICOLON Consortium.
Paper that established universal MMR testing of colorectal tumors, with subsequent germline analysis of positive results has greatest sensitivity for identification of Lynch Syndrome (100% sensitivity, 93% specificity)
Katerina Wells and Paul Wise.
Updated overview of the many hereditary syndromes in colorectal cancer.
Updated clinical practice guidelines for patients with polyposis and non-polyposis syndromes, including Lynch Syndrome.
Daniel O. Herzig, M.D., W. Donald Buie, M.D., Martin R. Weiser, M.D. Y. Nancy You, M.D., Janice F. Rafferty, M.D., Daniel Feingold, M.D. and Scott R. Steele, M.D.
Short update on best practices for surgical treatment of Lynch Syndrome, from the American Society of Colon and Rectal Surgeons.
Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, Baron JA, Giles GG, Leggett BA, Winship I, Lipton L, Young GP, Young JP, Lodge CJ, Southey MC, Newcomb PA, Le Marchand L, Haile RW, Lindor NM, Gallinger S, Hopper JL, Jenkins MA.
Showed that more extensive colonic resection for colorectal cancer in setting of Lynch Syndrome decreased likelihood of subsequent colorectal cancer. Risk of metachronous colorectal cancer reduced by 31% for every 10 cm of bowel removed at initial cancer operation.
Papers we discussed
Laura Renkonen-Sinisalo, M.D., Ph.D., Toni T. Seppälä, M.D., Ph.D., Heikki J. Järvinen, M.D., Ph.D., Jukka-Pekka Mecklin, M.D., Ph.D.
Based on Finnish registry data, the authors show that patients who underwent subtotal colectomy instead of segmental resection had a decreased risk of subsequent colon cancer and repeat operation. However these differences did not translate to a difference in overall or disease specific survival.
Pål Møller, Toni Seppälä, Inge Bernstein, Elke Holinski-Feder, Paola Sala, D Gareth Evans, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Laura Renkonen-Sinisalo, Ian M Frayling, John-Paul Plazzer, Kirsi Pylvanainen, Maurizio Genuardi,32 Jukka-Pekka Mecklin, Gabriela Möslein,34 Julian R Sampson,16 Gabriel Capella,14 in collaboration with The Mallorca Group (http://mallorca-group.org)
Registry data on LS patients with primary operations between 1984 and 2010, retrospective cohort study. Data on subsequent cancer risk, types of cancers by mutation type.
Lynch Syndrome Risk Calculator: lscarisk.org
This episode was produced by Linda Jin and Brad Krasnick.
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