Early-onset colorectal cancer is an easy and effective tool to identify retrospectively Lynch syndrome

José Perea, Yolanda Rodríguez, Daniel Rueda, Jose C. Marín, José Díaz-Tasende, Edurne Álvaro, Cristina Alegre, Irene Osorio, Francisco Colina, Manuel Lomas, Manuel Hidalgo, Javier Benítez, Miguel Urioste

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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 Lynchrelated 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.

Original languageEnglish (US)
Pages (from-to)3285-3291
Number of pages7
JournalAnnals of surgical oncology
Issue number12
StatePublished - Nov 2011
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Oncology


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