caa a22 4500 445334703 CHVBK 20180317142750.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1245/s10434-011-1782-4 doi (NATIONALLICENCE)springer-10.1245/s10434-011-1782-4 Early-Onset Colorectal Cancer is an Easy and Effective Tool to Identify Retrospectively Lynch Syndrome [Elektronische Daten] [José Perea, Yolanda Rodríguez, Daniel Rueda, José Marín, José Díaz-Tasende, Edurne Álvaro, Cristina Alegre, Irene Osorio, Francisco Colina, Manuel Lomas, Manuel Hidalgo, Javier Benítez, Miguel Urioste] Background and Objectives: Early age of onset is a marker of a possible hereditary component in colorectal cancer (CRC). We evaluated whether early age of onset is a good marker to identify Lynch syndrome, especially retrospectively, and if there is any other feature that could improve this identification. Methods: We selected patients with CRC aged 45years or younger from the pathological reports of three different institutions and different periods of time. Clinical information, family history, and tumor samples were obtained. Cases were classified according to mismatch repair (MMR) proficiency. Results: Of 133 tumors, 22 showed microsatellite instability (MSI). In 15 MSI cases, a germline mutation in 1 of the MMR genes was identified, 7 of which were not identified before. The positive predictive value (PPV) of right colon CRC for a positive genetic MMR test is 30.6%, whereas "signet ring” cells and fulfillment Amsterdam II criteria have PPVs of 42.9% and 47.8%, respectively. Combining right-sided CRC with mucin production, with fulfilling Amsterdam II criteria, or with "signet ring” cells, PPVs are 54.5, 64.3, and 100%. The probability of the absence of a mutation when CRC is located in the left colon is 94.7%, whereas absence of aggregation for Lynch-related neoplasm has a 100% probability. Conclusions: Early age of onset is an effective method to identify retrospectively Lynch syndrome. Taking into account the location and histology features of the tumor, and the familial history of the cases, we notably increase the a priori probability of detecting a germline MMR mutation. Society of Surgical Oncology, 2011 Perea José Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Rodríguez Yolanda Pathology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Rueda Daniel Molecular Biology Laboratory, Hospital Universitario 12 de Octubre, Madrid, Spain aut Marín José Gastroenterology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Díaz-Tasende José Gastroenterology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Álvaro Edurne Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Alegre Cristina Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Osorio Irene Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Colina Francisco Pathology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Lomas Manuel Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Hidalgo Manuel Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut Benítez Javier Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut Urioste Miguel Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut Annals of Surgical Oncology Springer-Verlag 18/12(2011-11-01), 3285-3291 1068-9265 18:12<3285 2011 18 10434 https://doi.org/10.1245/s10434-011-1782-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1245/s10434-011-1782-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Perea José Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Rodríguez Yolanda Pathology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Rueda Daniel Molecular Biology Laboratory, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Marín José Gastroenterology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Díaz-Tasende José Gastroenterology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Álvaro Edurne Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Alegre Cristina Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Osorio Irene Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Colina Francisco Pathology Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Lomas Manuel Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Hidalgo Manuel Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Benítez Javier Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut NATIONALLICENCE 700 1- Urioste Miguel Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut NATIONALLICENCE 773 0- Annals of Surgical Oncology Springer-Verlag 18/12(2011-11-01), 3285-3291 1068-9265 18:12<3285 2011 18 10434 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer