[Genetics of colorectal cancer]. / Genética del cáncer colorrectal.

Up to 5% of all cases of colorectal cancer (CRC) are due to a known hereditary syndrome. These hereditary forms often require a high degree of suspicion for their diagnosis and specific and specialized management. Moreover, a diagnosis of hereditary CRC has important consequences, not only for patients-for whom highly effective preventive measures are available-, but also for their relatives, who may be carriers of the same condition. The most significant advances in the field of hereditary CRC have been produced in the diagnosis and characterization of these syndromes and in the discovery of new causative genes.

[Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer]. / Síndrome de poliposis hiperplásica: diversidad fenotípica y asociación a cáncer colorrectal.

BACKGROUND AND OBJETIVE: Hyperplastic polyposis syndrome (HPS) is an uncommon disorder characterized by hyperplastic polyps (HP) occasionally associated with serrated adenomas (SA) or mixed polyps (MP) and defined by clinical criteria (OMS/Cleveland). HPS is heterogeneous regarding the number and size of polyps, and it is associated with colorectal cáncer (CRC) and a family history. Its genetic basis is unknow. We describe individuals with HPS criteria from a series of families assessed in our Unit of Genetic Advice for colonic polyposis. Our objective is to identify the clinical characteristics of this syndrome. PATIENTS AND METHODS: Retrospective study of 197 families with colonic polyposis (1998-2011), identifying patients with HPS criteria. To know the number of polyps, we took into account polypectomies and/or the histologic study of surgical samples. Polyps were classified into adenomas, serrated lesiones (HP and SA) and MP. Genetic studies revealed: microsatellite instability (MSI), MUTYH gene variants (p.Tyr165Cys, p.Gly382Asp and p.Glu396GlyfsX43) and APC gene. RESULTS: Eighteen individuals, with a median age of 51.1 years, had criteria of HPS (11M/7F). Number of HP varied between 14 and 100 coexisting with classical adenomas, SA and MP in 14 individuals (77.8%). Localization of polyps: ascending and descending colon in 13 individuals (72.2%) and only descending colon in 5 (27.8%). A CRC was detected in 10/18 (55.6%) patients, and 3 of them had a double CRC, a family history in 3 patients (16.7%) and a history of HPS in one. IMS was not detected in 8 CRC nor in 3 adenomas studied; we detected 2/13 heterozygous mutations in the MUTYH gene (p.Gly382Asp) and one variant with an unknown biological significance in the APC gene (p.Ser926Pro). CONCLUSIONS: The phenotypic variability of HPS difficults its identification, hence it is important to adhere to the clinical criteria established for its classification as well as to establish screening guidelines for CRC on the basis of its high incidence.

Poliposis serrata (antiguamente denominada poliposis hiperplásica). Presentación de un caso y revisión de la literatura / Serrated polyposis (previously named hyperplastic polyposis): case report and literature review

Antecedentes: la poliposis hiperplásica es una enfermedad esporádica, con bases genéticas poco conocidas, que se manifiesta usualmente alrededor de los 50 años de edad. Posee un riesgo aumentado para el cáncer colorrectal, el cual ha sido citado de hasta un 50 % en diferentes series de la literatura. En su patogénesis ha sido implicada la secuencia pólipo hiperplásico-adenoma serrato-cáncer colorrectal. Objetivo: presentar un caso clínico y realizar una revisión bibliográfica del tema, especialmente en relación con su pesquisa y manejo. Lugar de realización: Institución pública. Población: un paciente de 54 años de edad evaluado y tratado por cáncer de recto y poliposis hiperplásica. Método: presentación de un caso y análisis bibliográfico. Conclusiones: la poliposis hiperplásica es una enfermedad fenotípicamente heterogénica y los individuos afectados tienen riesgo aumentado para desarrollar un cáncer colorrectal.

Background: Hyperplastic polyposis is a sporadic disease, with little known genetic basis that usually present at around 50 years old. It has an increased risk of colorectal cancer up to 50%, according to different series of the literature. With regard to the pathogenesis a sequence of hyperplastic polyposis­serrated adenoma-colorectal cancer has been involved. Objective: To report on a case and to make a literature review on this subject, especially with relation to the screening and management. Place of application: Public Institution. Population: 54 years old patient evaluated and treated for rectal cancer and hyperplastic polyposis. Method: case report and literature review. Conclusions: hyperplastic polyposis is a phenotypicaly heterogeneous disease and affected individuals are at increased risk for colorectal cancer.

Poliposis serrata (antiguamente denominada poliposis hiperplásica). Presentación de un caso y revisión de la literatura / Serrated polyposis (previously named hyperplastic polyposis): case report and literature review

Antecedentes: la poliposis hiperplásica es una enfermedad esporádica, con bases genéticas poco conocidas, que se manifiesta usualmente alrededor de los 50 años de edad. Posee un riesgo aumentado para el cáncer colorrectal, el cual ha sido citado de hasta un 50 % en diferentes series de la literatura. En su patogénesis ha sido implicada la secuencia pólipo hiperplásico-adenoma serrato-cáncer colorrectal. Objetivo: presentar un caso clínico y realizar una revisión bibliográfica del tema, especialmente en relación con su pesquisa y manejo. Lugar de realización: Institución pública. Población: un paciente de 54 años de edad evaluado y tratado por cáncer de recto y poliposis hiperplásica. Método: presentación de un caso y análisis bibliográfico. Conclusiones: la poliposis hiperplásica es una enfermedad fenotípicamente heterogénica y los individuos afectados tienen riesgo aumentado para desarrollar un cáncer colorrectal.(AU)

Background: Hyperplastic polyposis is a sporadic disease, with little known genetic basis that usually present at around 50 years old. It has an increased risk of colorectal cancer up to 50%, according to different series of the literature. With regard to the pathogenesis a sequence of hyperplastic polyposis¡serrated adenoma-colorectal cancer has been involved. Objective: To report on a case and to make a literature review on this subject, especially with relation to the screening and management. Place of application: Public Institution. Population: 54 years old patient evaluated and treated for rectal cancer and hyperplastic polyposis. Method: case report and literature review. Conclusions: hyperplastic polyposis is a phenotypicaly heterogeneous disease and affected individuals are at increased risk for colorectal cancer.(AU)