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oai:docta.ucm.es:20.500.14352/1307032026-01-22T00:52:26Zcom_20.500.14352_14col_20.500.14352_15

00925njm 22002777a 4500 dc Perea García, José author Rodríguez Gil, Yolanda author Marín Gabriel, José Carlos author Díaz Tasende, José Benjamín author Inglada Pérez, Lucía Silvia author Colina Ruiz-Delgado, Francisco author Urioste, Miguel author 2011 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 45 years 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. Perea J, Rodríguez Y, Rueda D, Marín JC, Díaz-Tasende J, Álvaro E, Alegre C, Osorio I, Colina F, Lomas M, Hidalgo M, Benítez J, Urioste M. Early-onset colorectal cancer is an easy and effective tool to identify retrospectively Lynch syndrome. Ann Surg Oncol. 2011 Nov;18(12):3285-91. doi: 10.1245/s10434-011-1782-4 1068-9265 10.1245/s10434-011-1782-4 https://hdl.handle.net/20.500.14352/130703 1534-4681 https://doi.org/10.1245/s10434-011-1782-4 21590452 https://link.springer.com/article/10.1245/s10434-011-1782-4 https://pubmed.ncbi.nlm.nih.gov/21590452/ Early-Onset Colorectal Cancer is an Easy and Effective Tool to Identify Retrospectively Lynch Syndrome