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Resumen Este documento actualiza las recomendaciones realizadas por la Sociedad Espanola de Medicina Familiar y Comunitaria y la Asociacion Espanola de Gastroenterologia para el diagnostico y la prevencion del cancer colorrectal (CCR). Para establecer la calidad de la evidencia y los niveles de recomendacion de las intervenciones se ha utilizado la metodologia basada en el sistema GRADE (Grading of Recommendations Assessment, Development and Evaluation). Este documento establece intervalos de demora optimos en funcion de los sintomas y el test de SOH inmunologico (SOHi) y recomienda reducir las barreras para la confirmacion diagnostica en los pacientes con sintomas. En cuanto al cribado en poblacion de riesgo medio, se proponen estrategias para conseguir la implantacion universal del cribado poblacional basado en SOHi bienal e incrementar la participacion de la poblacion diana, incluyendo la implicacion de atencion primaria. Esta guia de practica clinica recomienda el cribado universal del sindrome de Lynch mediante la inmunohistoquimica de las proteinas reparadoras o la inestabilidad de microsatelites en los CCR incidentes y el uso de paneles de genes en los pacientes con poliposis adenomatosas. Tambien actualiza las estrategias para reducir la incidencia y la mortalidad tanto de CCR como de otros tumores asociados a los sindromes hereditarios. En cuanto al CCR familiar no hereditario y la vigilancia tras reseccion de CCR, adenomas y lesiones serradas, se establecen recomendaciones en funcion del riesgo atribuible y la reduccion del riesgo de la intervencion propuesta. Finalmente, en el documento se incluyen recomendaciones respecto a los intervalos de vigilancia en la enfermedad inflamatoria intestinal y la actitud ante la displasia.

EPICOLON consortium: et al., Colorectal cancer (CRC) is one of the most common neoplasms and an important cause of mortality worldwide (http://globocan.iarc.fr/). Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors (Lichtenstein et al., 2000). Genetic variations in the human genome include single nucleotide variants (SNVs), short insertions and deletions, and larger structural variants resulting in gain or loss of genomic DNA larger than 1 kb, such as copy number variants (CNVs). Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline DNA of healthy individuals from the general population and be considered polymorphic. Common germline CNVs can confer a small increase in the risk of predisposition to disease, whereas rare CNVs have been linked to hereditary cancer predisposition including CRC. Recent examples include alterations involving EPCAM, PTPRJ, CDH18, GREM1 and FOCAD (Ligtenberg et al., 2009; Venkatachalam et al., 2011; Jaeger et al., 2012; Weren et al., 2015)., This work was supported by CIBEREHD (to SFE, CEJ and JM), CIBERER, Fondo de Investigación Sanitaria/FEDER (14/00173, 14/00230 and 17/00878), Ministerio de Economía y Competitividad (SAF2014-54453-R), Fundación Científica de la Asociación Española contra el Cáncer (GCB13131592CAST), PERIS (SLT002/16/00398, Generalitat de Catalunya), COST Action BM1206, Beca Grupo de Trabajo “Oncología” AEG (Asociación Española de Gastroenterología), CERCA Programme (Generalitat de Catalunya) and Agència de Gestió d'Ajuts Universitaris i de Recerca (Generalitat de Catalunya, FI 2017 B00619 to MDG, 2014SGR255, 2014SGR135).

Colorectal adenomas and serrated polyps are the best characterised premalignant lesions involved in the development of colorectal cancer (CRC). Therefore, the identification and removal of these lesions, as well as post-polypectomy surveillance of affected patients, are key goals in the field of CRC prevention. Current post-polypectomy surveillance strategies differ among the various scientific societies and have several limitations that hamper their application in clinical practice. First, current surveillance intervals are based only on polyp characteristics, excluding other potential clinical conditions, such as diabetes or metabolic syndrome. Second, serrated polyps and adenomas are considered separately, but there is no recommendation in cases of the simultaneous occurrence of both types of lesion. Third, the incorporation of endoscopic technologies implies an increase in polyp detection, whose clinical impact is controversial and directly affects the number of scheduled colonoscopies with an indication of surveillance. Some of the studies presented at the AGA (American Gastroenterological Association) meeting aimed to provide new evidence on the follow-up of colorectal polyps, with a view to optimising the applicability and suitability of current surveillance strategies.

The most common hereditary gastrointestinal cancers are colorectal, mainly hereditary nonpolyposis colorectal cancer (Lynch syndrome) and familial adenomatous polyposis. Other extracolonic neoplasms, including the gastric and pancreatic adenocarcinomas, are less well known and studied because they account for a relatively small percentage of hereditary gastrointestinal cancers. Nonetheless, they merit special attention because of the high associated morbidity and mortality rates. We review the hereditary and familial syndromes associated with gastric and pancreatic cancers with a view to improving knowledge and understanding of these diseases, in order to heighten diagnostic suspicion and thus implement appropriate diagnostic strategies, screening, surveillance and treatment.

The most common hereditary gastrointestinal cancers are colorectal, mainly hereditary nonpolyposis colorectal cancer (Lynch syndrome) and familial adenomatous polyposis. Other extracolonic neoplasms, including the gastric and pancreatic adenocarcinomas, are less well known and studied because they account for a relatively small percentage of hereditary gastrointestinal cancers. Nonetheless, they merit special attention because of the high associated morbidity and mortality rates. We review the hereditary and familial syndromes associated with gastric and pancreatic cancers with a view to improving knowledge and understanding of these diseases, in order to heighten diagnostic suspicion and thus implement appropriate diagnostic strategies, screening, surveillance and treatment.

Resumen Los polipos serrados del colon constituyen un grupo heterogeneo de lesiones con potencial de transformacion a cancer colorrectal a traves de la «via serrada» de la carcinogenesis. El descubrimiento de estas lesiones ha supuesto un cambio de paradigma en el concepto de la secuencia adenoma-carcinoma, de modo que hasta un 30% de los tumores se desarrollan por esta via. Los principales factores que se asocian a un mayor riesgo de malignizacion en los polipos serrados son el tamano ≥ 10 mm, la multiplicidad, la histologia de adenoma serrado sesil, la presencia de displasia asociada y la localizacion proximal. La evidencia actual indica que estas lesiones deben ser resecadas completamente y que el paciente requiere un programa de vigilancia endoscopica. El sindrome de poliposis serrada es una entidad clinico-patologica asociada a un aumento del riesgo de padecer cancer colorrectal. Estos pacientes y sus familiares requieren una evaluacion multidisciplinar en unidades de alto riesgo de cancer colorrectal.

Serrated polyps of the colorectum are a heterogeneous group of lesions with potential malignant transformation through the «serrated pathway» of carcinogenesis. The discovery of these lesions has been a paradigm shift in the concept of the adenoma-carcinoma sequence, so that up to 30% of tumors develop through this pathway. The main factors associated with an increased risk of malignancy in serrated polyps are size≥10mm, multiplicity, sessile serrated adenoma histology, presence of associated dysplasia and proximal location. Current evidence indicates that these lesions should be resected completely, and the patient requires an endoscopic surveillance program. Serrated polyposis syndrome is a clinicopathological entity characterized by multiple and/or large serrated polyps with an increased risk of developing colorectal cancer. These patients and their families, require multidisciplinary assessment in specialized high risk colorectal cancer units.

Background. Post polypectomy surveillance colonoscopies are a huge burden on healthcare systems. Improved risk assessment could result in reduced colonoscopy use. Our aim was to identify patient, polyp and program factors associated with incidence of new neoplasia at first surveillance colonoscopy following an initial diagnosis of colorectal adenomaMethods. We reviewed colorectal cancer (CRC) surveillance outcome data contained in a colonoscopy recall database. Findings at first surveillance colonoscopy in people who had been diagnosed with advanced (high risk, HRA) adenoma ( ≥ 3 polyps, size ≥10mm, villous component, serration, high grade dysplasia) at diagnostic colonoscopy were compared to those with non-advanced (low risk, LRA) adenomas at diagnosis. Data included patient age and sex, polyp features and location, and interval between colonoscopies. Outcomes were compared using bivariate (Fisher's exact) and multivariate (multinomial logistic regression) analyses. Results. Among 457 eligible patients, 266 (58%) were males, and mean age at diagnostic colonoscopy was 63 years. Mean time between diagnostic and surveillance colonoscopy were 43 and 31 months (median 40 and 35 months) for HRA and LRA respectively. There was a significant difference between groups for outcome at surveillance (Table, p=0.014). At the multivariate level, significant associations between outcome at surveillance and polyp features at diagnosis were limited. Controlling for age, gender and colonoscopy interval, those with LRA at diagnosis were more likely to have LRA at surveillance (RRR=1.91, p= 0.023, 95% CI 1.09-3.34). There was a non-significant trend towards increased risk for advanced neoplasia (HRA plus cancers) at surveillance in those originally diagnosed with HRA (RRR=1.31). Age and sex were significant predictors of adenoma incidence at surveillance. Relative risk ratios for HRA increased with each year of age for both males (RRR 1.04, p=0.007, 95% CI 1.01-1.07) and females (RRR 1.04, p=0.019, 95% CI 1.01-1.07), while the relative risk ratio for LRA increased significantly per year of age for males only (RRR 1.03, p=0.007, 95% CI 1.01-1.06). Conclusions: While features of polyps at diagnostic colonoscopies remain key predictors of findings at surveillance, age and sex are additional variables that predict worse outcome. Reduced risk of LRA at surveillance in patients previously diagnosed with HRA may reflect a more conscientious approach by proceduralists at diagnosis. Post polypectomy surveillance could focus more towards older patients. Table. Surveillance outcomes following a diagnosis of low or high risk adenoma.