Appendiceal collision tumors: case reports, management and literature review.

Appendiceal tumors are incidentally detected in 0.5% cases of appendectomy for acute appendicitis and occur in approximately 1% of all appendectomies. Here, we report two cases of appendiceal collision tumors in two asymptomatic women.

Exit strategies in inflammatory bowel disease: Looking beyond anti-tumor necrosis factors.

The long-term management of patients with inflammatory bowel disease (IBD) is still a matter of debate, and no clear guidelines have been issued. In clinical practice, gastroenterologists often have to deal with patients in prolonged remission after immunomodulatory or immunosuppressive therapies. When planning an exit strategy for drug withdrawal, the risk of disease relapse must be balanced against the risk of drug-related adverse events and healthcare costs.

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Backgrounds: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families.

A comprehensive assessment of the impact of a colorectal cancer screening program in a northern Italian area.

Background: The impact of a faecal immunochemical test-based colorectal cancer (CRC) screening program in terms of patient prognosis could be affected by lead-time bias, which artificially increases the survival of screen-detected patients due to the early diagnosis.

Aims: To provide a description of the impact of the CRC screening program in the Trentino Region (Italy), including the Cure Fraction (CF), a prognostic indicator not affected by lead-time bias.

Methods: The program started in 2008, inviting the resident population aged 50-69 years.

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.

A MSH6 3'UTR variant (c.*23_26dup) was found in 13 unrelated families consulted for Lynch/Muir-Torre Syndrome. This variant, which is very rare in the genomic databases, was absent in healthy controls and strongly segregated with the disease in the studied pedigrees.

Appropriateness and yield of surveillance colonoscopy in first-degree relatives of colorectal cancer patients: A 5-year follow-up population-based study.

Background And Aims: There are few prospective data about the use of surveillance colonoscopy and the risk of recurrent neoplasia in first degree relatives (FDRs) of colorectal cancer (CRC) patients. We examined the use and yield of surveillance colonoscopy in a population-based screening program (Trentino, Italy) METHODS: 1252 FDRs have been included in this study. We calculated compliance (percentage of FDRs who underwent surveillance colonoscopy among those eligible), appropriateness of colonoscopy (appropriate if performed within 6 months of the guidelines recommended interval) and diagnostic yield for neoplasia.

Full-spectrum (FUSE) versus standard forward-viewing colonoscopy in an organised colorectal cancer screening programme.

Objective: Miss rate of polyps has been shown to be substantially lower with full-spectrum endoscopy (FUSE) compared with standard forward-viewing (SFV) colonoscopy in a tandem study at per polyp analysis. However, there is uncertainty on whether FUSE is also associated with a higher detection rate of colorectal neoplasia, especially advanced lesions, in per patient analysis.

Methods: Consecutive subjects undergoing colonoscopy following a positive faecal immunochemical test (FIT) by experienced endoscopists and performed in the context of a regional colorectal cancer population-screening programme were randomised between colonoscopy with either FUSE or SFV colonoscopy in seven Italian centres.

The management of malignant polyps in colorectal cancer screening programmes: A retrospective Italian multi-centre study.

Background: Although recognition of colorectal malignant polyps is increasing, treatment plans lack the evidence of randomised trials.

Aim: To retrospectively evaluate presentation, management and outcomes of screen-detected colorectal malignant polyps, with special focus on the role of histological factors in therapeutic decision-making.

Methods: We retrospectively analysed data regarding malignant polyps detected during faecal immuno-chemical test-based screening programmes in five centres in North-Eastern Italy between April 2008 and April 2013.

Familial colorectal cancer: a review.

Familial colorectal cancer constitutes a heterogeneous group of patients in whom the underlying molecular mechanism is still unknown. Predisposition to a such neoplasms in this setting seems to be due to common low-penetrance genetic components, but the role of genetic testing in clinical practice has to be determined. Although screening guidelines in this moderate-risk population are empiric, data obtained in epidemiologic, meta-analyses and cohort studies and, more recently, the increased risk of advanced adenomas in first degree relatives who underwent screening colonoscopy support the need to include these individuals in specific screening programs.

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Heterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which--owing to extensive interparalog sequence exchange--closely resembles PMS2 downstream of exon 12.

Colonoscopic findings in first-degree relatives of patients with colorectal cancer: a population-based screening program.

Background: A screening colonoscopy is recommended in first-degree relatives (FDRs) of colorectal cancer patients; few prospective, controlled studies have evaluated colorectal findings in a population-based screening program.

Objective: To evaluate the prevalence of colorectal neoplasia (adenomas and adenocarcinomas) in this increased-risk population, to compare it with that of average-risk individuals, and to identify features that might allow risk stratification for neoplasia among FDRs.

Design: Cross-sectional study.