publication . Report . 2017

Incertezas na Abordagem ao Doente com Síndrome de Lynch: A propósito de um Caso Clínico

Campos, Sara; Amaro, Pedro; Cunha, Inês; Fraga, João; Cipriano, Maria Augusta; Tomé, Luís;
Open Access English
  • Published: 01 Oct 2017
  • Publisher: Sociedade Portuguesa de Gastrenterologia
Abstract
Introduction: Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is characterized by mutations in mismatch repair (MMR) genes leading to an increased cancer risk, namely colorectal cancer. Case: In the context of surveillance colonoscopy, a 40-mm flat lesion (0-IIa+b, Paris classification) was identified and submitted to piecemeal mucosal endoscopic resection in a 64-year-old LS patient with an MLH1 germline mutation (262delATC) and two previous segmental resections due to metachronous colorectal cancer. Pathology raised the suspicion of superficial submucosal invasive carcinoma with poor differentiation. Immunochemistry showed heterogen...
Subjects
free text keywords: Imunohistoquímica, Lynch syndrome, Resseção endoscópica, Síndrome de Lynch, Endoscopic resection, Immunochemistry

1 Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, et al: Populationbased molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-2200. [OpenAIRE]

2 Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, et al: Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293:1986- 1994.

3 Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, et al: Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481- 1487.

4 Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, et al: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751- 2763.

5 Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352: 1851-1860.

6 Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-1038.

7 Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-1225.

8 Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al: Mutation of a mutL homolog in hereditary colon cancer. Science 1994;263:1625-1629.

9 Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, et al: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 1994;368: 258-261.

10 Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al: Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Am J Gastroenterol 2014;109:1159-1179.

11 Shia J: Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. J Mol Diagn 2008;10:293-300. [OpenAIRE]

12 de Jong AE, van Puijenbroek M, Hendriks Y, Topc C, Wijnen J, Auserns MG, Meijers-Heijboer H, Wagner A, van Os TA, BrockerVriends AH, Vasen HF, Morreau H: Microsatellite instability, immunohistochemistry and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004;10:972-980.

13 Syngal S, Brand RE, Church JM, Giardello FM, Hampel HL, Burt RW: ACG Clinical Guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110:223- 262. [OpenAIRE]

14 Niv Y, Moeslein G, Vasen HFA, Karner-Hanusch J, Lubinsky J, Gasche C: Quality of colonoscopy in Lynch syndrome. Endosc Int Open 2014;2:E252-E255. [OpenAIRE]

15 Pimentel-Nunes P, Dinis-Ribeiro M, Ponchon T, Repici A, Vieth M, De Ceflie A, et al: Endoscopic submucosal dissection: European Society of Gastrointestinal Endoscopy guideline. Endoscopy 2015;47:829-854.

Powered by OpenAIRE Open Research Graph
Any information missing or wrong?Report an Issue