metricas
covid
Buscar en
Cirugía Española (English Edition)
Toda la web
Inicio Cirugía Española (English Edition) Lynch syndrome: Genetics and surgery
Información de la revista
Vol. 89. Núm. 1.
Páginas 3-9 (enero 2010)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 89. Núm. 1.
Páginas 3-9 (enero 2010)
Review Article
Acceso a texto completo
Lynch syndrome: Genetics and surgery
Síndrome de Lynch: genética y cirugía
Visitas
2049
Manuel Ferrer Márquez
Autor para correspondencia
manuferrer78@hotmail.com

Corresponding author.
, Ángel Reina Duarte, Vanesa Maturana Ibáñez, Ricardo Belda Lozano, Francisco Rubio Gil, Isabel Blesa Sierra, María del Mar Rico Morales
Servicio de Cirugía General y del Aparato Digestivo, Hospital Torrecárdenas, Almería, Spain
Este artículo ha recibido
Información del artículo
Abstract

Hereditary nonpolyposis colorectal cancer or Lynch Syndrome, caused by germinal mutations in mismatch deoxyribonucleic acid (DNA) repair genes, is the most common form of hereditary colorectal cancer. The identification of these individuals is not easy and is based on clinical and molecular criteria. A review is presented on the genetics and diagnosis in Lynch Syndrome, as well as on its surgical management and prevention.

Keywords:
Lynch
Colorectal cancer
Genetics Surgery
Resumen

El cáncer colorrectal hereditario no polipósico o síndrome de Lynch, causado por mutaciones germinales en genes reparadores de bases desapareadas de ácido desoxirribonucleico (ADN), es la forma más frecuente de cáncer colorrectal hereditario. La identificación de estos individuos no es fácil y se basa en criterios clínicos y moleculares. Se expone a continuación una revisión sobre genética y diagnóstico en el síndrome de Lynch, así como sobre su manejo quirúrgico y prevención.

Palabras clave:
Lynch
Cáncer colorrectal
Genética
Cirugía
El Texto completo está disponible en PDF
References
[1.]
H.T. Lynch, P. Watson, T.C. Smyrk, S.J. Lanspa, B.M. Boman, C.R. Boland, et al.
Colon cancer genetics.
Cancer, 70 (1992), pp. 1300-1312
[2.]
H.T. Lynch, A. De la Chapelle.
Hereditary colorectal cancer.
N Engl J Med, 348 (2003), pp. 919-932
[3.]
W. Al-Sukhni, M. Aronson, S. Gallinger.
Hereditary colorectal cancer syndromes: Familiar adenomatous polyposis and Lynch syndrome.
Surg Clin N Am, 88 (2008), pp. 819-844
[4.]
I. Quispe, J. Balmaña.
Desarrollo y aplicación de modelos predictivos en el síndrome de Lynch.
Med Clin, 134 (2010), pp. 412-417
[5.]
H.F. Vasen, J.P. Mecklin, P.M. Khan, H.T. Lynch.
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).
Dis Colon Rectum, 34 (1991), pp. 424-425
[6.]
H.F. Vasen, P. Watson, J.P. Mecklin, H.T. Lynch.
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
Gastroenterology, 116 (1999), pp. 1453-1456
[7.]
A. Umar, C.R. Boland, J.P. Terdiman, S. Syngal, A. De la Chapelle, J. Rüschoff, et al.
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
J Natl Cancer Inst, 96 (2004), pp. 261-268
[8.]
R.A. Barnetson, A. Tenesa, S.M. Farrington, I.D. Nicholl, R. Cetnarskyj, M.E. Porteous, et al.
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
N Engl J Med, 354 (2006), pp. 2751-2763
[9.]
J. Balmaña, D.H. Stockwell, E.W. Steyerberg, E.M. Stoffel, A.M. Deffenbaugh, J.E. Reid, et al.
Prediction of MLH1 and MSH2 mutations in Lynch syndrome.
JAMA, 296 (2006), pp. 1469-1478
[10.]
S. Chen, W. Wang, S. Lee, K. Nafa, J. Lee, K. Romans, et al.
Prediction of germline mutations and cancer risk in the Lynch syndrome.
JAMA, 296 (2006), pp. 1479-1487
[11.]
C.R. Boland, S.N. Thibodeau, S.R. Hamilton, D. Sidransky, J.R. Eshleman, R.W. Burt, et al.
A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.
Cancer Res, 58 (1998), pp. 5248-5257
[12.]
Z. Rudzki, M. Zazula, K. Okon, J. Stachura.
Low-level microsatellite instability colorectal carcinomas: do they really belong to a “gray zone” between high-level microsatellite instability and microsatellite-stable cancers?.
Int J Colorectal Dis, 18 (2003), pp. 216-221
[13.]
H.T. Lynch, P.M. Lynch, S.J. Lanspa, C.L. Snyder, J.F. Lynch, C.R. Boland.
Review of the lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.
[14.]
S.B. Gruber.
New developments in Lynch Syndrome (hereditary nonpoliposis colorectal cancer) and mismatch repair gene testing.
Gastrenterology, 130 (2006), pp. 577-587
[15.]
N.M. Lindor, K. Rabe, G.M. Petersen, R. Haile, G. Casey, J. Baron, et al.
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
JAMA, 293 (2005), pp. 1979-1985
[16.]
N.M. Lindor, L.J. Burgart, O. Leontovich, R.M. Goldberg, J.M. Cunningham, D.J. Sargent, et al.
Immunohistochemistry versus MSI testing in phenotyping colorectal tumors.
J Clin Oncol, 20 (2002), pp. 1043-1048
[17.]
C.R. Boland, M. Koi, D.K. Chang, J.M. Carethers.
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside.
Fam Cancer, 7 (2008), pp. 41-52
[18.]
V. Piñol, A. Castells, M. Andreu, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, et al.
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
JAMA, 293 (2005), pp. 1986-1994
[19.]
M.B. Loughrey, P.M. Waring, A. Tan, M. Trivett, S. Kovalenko, V. Beshay, et al.
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer.
Fam Cancer, 6 (2007), pp. 301-310
[20.]
G. Trano, W. Sjursen, H.H. Wasmuth, E. Hofsli, L.J. Vatten.
Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study.
Br J Cancer, 102 (2010), pp. 482-488
[21.]
H.F. Vasen, G. Möslein, A. Alonso, S. Aretz, I. Bernstein, L. Bertario, et al.
Recommendations to improve identification of hereditary and familiar colorectal cancer in Europe.
Fam Cancer, 92 (2010), pp. 109-115
[22.]
H.J. Järvinen, J.P. Mecklin, P. Sistonen.
Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer.
Gastroenterology, 108 (1995), pp. 1405-1411
[23.]
H.J. Järvinen, M. Aarnio, H. Mustonen, K. Aktan-Collan, L.A. Aaltonen, P. Peltomäki, et al.
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.
Gastroenterology, 118 (2000), pp. 829-834
[24.]
N.M. Lindor, G.M. Petersen, D.W. Hadley.
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review.
JAMA, 296 (2006), pp. 1507-1517
[25.]
H.F. Vasen, G. Möslein, A. Alonso.
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
J Med Genet, 44 (2007), pp. 353-362
[26.]
W.H. De Vos tot Nederveen Cappel, F.M. Nagengast, G. Griffioen, F.H. Menko, B.G. Taal, J.H. Kleibeuker, et al.
Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families.
Dis Colon Rectum, 45 (2002), pp. 1588-1594
[27.]
N. Natarajan, P. Watson, E. Silva-López, H.T. Lynch.
Comparison of extended colectomy and limited resection in patients with Lynch syndrome.
Dis Colon Rectum, 53 (2010), pp. 77-82
[28.]
W.H. De Vos tot Nederveen Cappel, E. Buskens, P. Van Duijvendijk, A. Cats, F.H. Menko, G. Griffioen, et al.
Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect.
Gut, 52 (2003), pp. 1752-1755
[29.]
E. Álvaro, J. Perea, M. Lomas, M. Urioste, M. Hidalgo.
Influencia de la edad en el tratamiento quirúrgico del síndrome de Lynch.
[30.]
J. Perea, I. Justo, E. Álvaro, M. Lomas, J.D. Tasende, J.C. Marín, et al.
Surgical management of hereditary colorectal cancer: surgery based on molecular analysis and family history.
Rev Esp Enferm Dig, 101 (2009), pp. 536-540
[31.]
T. Maeda, R.R. Cannom, R.W. Beart, D.A. Etzioni.
Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer.
J Clin Oncol, 28 (2010), pp. 1175-1180
[32.]
F. Alarcón, C. Lasset, J. Carayol, V. Bonadona, H. Perdry, F. Desseigne, et al.
Estimating cancer risk in HNPCC by the GRL method.
Eur J Hum Genet, 15 (2007), pp. 831-836
[33.]
M.A. Jenkins, L. Baglietto, J.G. Dowty, C.M. Van Vliet, L. Smith, L.J. Mead, et al.
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
Clin Gastroenterol Hepatol, 4 (2006), pp. 489-498
[34.]
K.M. Schmeler, H.T. Lynch, L.M. Chen, M.F. Munsell, P.T. Soliman, M.B. Clark, et al.
Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome.
N Engl J Med, 354 (2006), pp. 261-269
[35.]
H.T. Lynch, J.F. Lynch, T.A. Attard.
Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model.
CMAJ, 181 (2009), pp. 273-380
[36.]
S. Mc Cann, D. MacAuley, Y. Barnett, B. Bunting, A. Bradley, L. Jeffers, et al.
Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study.
Psycho-oncology, 18 (2009), pp. 1208-1215
Copyright © 2011. Asociación Española de Cirujanos
Descargar PDF
Opciones de artículo
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos