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Resumen
El cáncer colorrectal (CCR) es una de las neoplasias más frecuentes en los países desarrollados, y hasta un 5% de todos los casos ocurre en el contexto de un síndrome hereditario. Estas formas hereditarias demandan, en muchas ocasiones, un alto grado de sospecha para su diagnóstico, y requieren de un manejo específico y especializado. Además, el diagnóstico del CCR hereditario tiene importantes consecuencias no sólo para el paciente, para el que hay medidas de prevención altamente efectivas, sino también para los familiares, que pueden ser portadores de la misma condición. Los avances más significativos en el campo del CCR hereditario se han producido en el diagnóstico y caracterización del síndrome de Lynch y el síndrome de poliposis serrada.
Palabras clave:
Cáncer colorrectal hereditario
Síndrome de Lynch
Síndrome de poliposis hiperplásica
Poliposis serrada
Pólipo serrado
Poliposis asociada a MUTYH
Abstract
Colorectal cancer (CRC) is one of the most frequent neoplasms in developed countries and up to 5% of all cases occur in the context of a hereditary syndrome. These hereditary forms often require a high index of suspicion for their diagnosis and specific and specialized management. Moreover, a diagnosis of hereditary CRC has major consequences not only for the patient –for whom there are highly effective preventive measures– but also for the patient's relatives, who may carry the same condition. The most significant advances in the field of hereditary CRC have been produced in the diagnosis and characterization of Lynch's syndrome and serrated polyposis syndrome.
Keywords:
Hereditary colorectal cancer
Lynch's syndrome
Hyperplastic polyposis syndrome
Serrated polyposis
Serrated polyp
MUTYH-associated polyposis
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