Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.

Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to colorectal cancer (CRC). However, the molecular basis of SPS, especially in cases presenting family history of SPS and/or polyps and/or CRC in first-degree relatives (SPS-FHP/CRC), is still poorly understood. In a previous study, we proposed the existence of two molecular entities amongst SPS-FHP/CRC families, proximal/whole-colon and distal SPS-FHP/CRC, according to the preferential location of lesions and somatic events involved in tumor initiation.

Endoscopic Approach to Duodenal Adenomas in Familial Adenomatous Polyposis: A Retrospective Cohort.

Introduction: Over 90% of the patients with familial adenomatous polyposis (FAP) will develop duodenal adenomas.

Aim: The aim of this study was to evaluate the effectiveness and safety of endoscopic excision of large duodenal adenomas in FAP patients.

Methods: All FAP patients from a familial risk clinic submitted to endoscopic therapy for duodenal adenomas ≥10 mm between January 2010 and February 2021 were included.

Routine Immunohistochemical Analysis of Mismatch Repair Proteins in Colorectal Cancer-A Prospective Analysis.

Recognition of a hereditary colorectal cancer (CRC) syndrome is crucial and Lynch Syndrome (LS) is the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC is therefore advocated. An unicentric cohort study was conducted in a central Oncological Hospital to assess its results. All patients under 70 years-old admitted between July 2017-June 2019 and submitted to surgery for CRC were included.

Real-Time Optical Diagnosis of Colorectal Polyps in the Routine Clinical Practice Using the NICE and WASP Classifications in a Nonacademic Setting.

Background: Narrow-band imaging (NBI) allows "in vivo" classification of colorectal polyps.

Objectives: We evaluated the optical diagnosis by nonexpert community-based endoscopists in routine clinical practice, the impact of training, and whether the endoscopists could achieve the threshold for the "do not resect" policy.

Methods: This was an observational study performed in two periods (P1 and P2).

Pediatric Colorectal Cancer: A Heterogenous Entity.

Introduction: Colorectal cancer (CRC) is extremely rare in pediatric age. A poor outcome has been reported.

Aims: We aimed to characterize a group of pediatric CRC patients.

The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.

The mutational spectrum of the MMR genes is highly heterogeneous, but specific mutations are observed at high frequencies in well-defined populations or ethnic groups, due to founder effects. The MSH2 mutation c.2152C>T, p.

Bilateral breast fibromatosis after silicone prosthetics in a patient with classic familial adenomatous polyposis: A case report.

Breast fibromatosis is a benign fibroblastic proliferation accounting for less than 0.2% of breast tumors. It presents sporadically or as a manifestation of familial adenomatous polyposis (FAP).

Colorectal cancer surveillance in Portuguese families with lynch syndrome: a cohort study.

Purpose: Lynch syndrome (LS) is associated with a high risk of colorectal cancer (CRC). The aim of this study was to assess the cumulative risk for the development of colorectal adenomas or carcinomas in a LS CRC surveillance program and to audit the quality of the endoscopic procedures.

Methods: We evaluated 147 asymptomatic LS mutation carriers, without previous CRC, in a surveillance program with colonoscopy every 12-18 months, between 2005 and 2016.

Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities.

Serrated polyposis (SPP) is characterized by the development of multiple serrated polyps and an increased predisposition to colorectal cancer (CRC). In the present study, we aimed to characterize, at a clinical and molecular level, a cohort of SPP patients with or without a family history of SPP and/or polyps/CRC (SPP-FHP/CRC). Sixty-two lesions from 12 patients with SPP-FHP/CRC and 6 patients with sporadic SPP were included.

Gastric malt lymphoma: Analysis of a series of consecutive patients over 20 years.

Introduction And Aims: Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is closely associated with Helicobacter pylori (HP) infection. Our aim was to evaluate demographic, clinical and endoscopic characteristics of gastric MALT lymphoma patients, as well as to analyse response to treatment and factors that affect complete remission (CR) and relapse. We also assessed the long-term prognosis.

Esophageal stenosis with sloughing esophagitis: A curious manifestation of graft-vs-host disease.

We report a case of a 56-year-old woman with a history of allogenic bone marrow transplantation for two years, complaining with dysphagia and weight loss. Upper endoscopy revealed esophageal stenosis and extensive mucosa sloughing. Biopsies confirmed the diagnosis of graft-vs-host disease (GVHD).

Hyperplastic polyp? Look again... the impact of the new classification for serrated polyps.

Introduction: The World Health Organization reviewed the classification for serrated colonic polyps in 2010. A new entity, sessile serrated adenoma, was included with two variants: with and without cytological dysplasia. This lesion's malignant potential has been recognized and according to the new classification, many polyps may be reclassified.

Endoscopic mucosal resection of superficial colorectal neoplasms: review of 140 procedures.

Introduction And Aims: Endoscopic mucosal resection (EMR) has been shown to be useful in the removal of large colorectal sessile and flat lesions, avoiding the need for surgical resection. The aim of this study was to evaluate the efficacy and safety of EMR in colorectal lesions using the inject-and-cut technique.

Material And Methods: Based on the review of colonoscopy reports, performed from February 2007 and February 2010, resected lesions = 10 mm in diameter were selected for the study.

Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.

In 1997 Bethesda Guidelines (BG) were established and in 2004 those criteria were revised (RBG), with the main goal of selecting colorectal cancers (CRC) that should be subjected to microsatellite instability (MSI) testing. High microsatellite instability (MSI-H) is an intermediate marker for mutational analysis of the mismatch repair (MMR) genes involved in the genesis of Lynch Syndrome (LS). We aimed to evaluate and compare BG/RBG in the detection of MSI-H and subsequent identification of pathogenic MMR genes mutations.

Familial colorectal cancer type X syndrome: two distinct molecular entities?

In a fraction of families fulfilling the Amsterdam criteria for hereditary non-polyposis colorectal cancer, colorectal cancers are microsatellite stable and DNA mismatch repair gene (MMR) mutations are not found. These families were designated as familial colorectal cancer type X (FCCTX). We aimed to characterise a group of FCCTX families defined by the Amsterdam criteria and MSS tumours at clinical and molecular level.

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability.

It is unclear whether the mutation spectra in WNT genes vary among distinct types of colorectal tumors. We have analyzed mutations in specific WNT genes in a cohort of 52 colorectal tumors and performed a meta-analysis of previous studies. Notably, significant differences were found among the mutation spectra.

[Familial colorectal cancer type X: clinical, pathological and molecular characterization].

Background: Some families fulfilling the Amsterdam Criteria (AC) differ from the Lynch syndrome (LS) in that colorectal cancers (CRC) do not present microsatellite instability (MSI) and DNA mismatch repair gene mutations are not found. These families have been designated as Familial Colorectal Cancer type X (XS) and their genetic basis remains unknown.

Aims: In families fulfilling AC for LS: 1) To perform MSI testing in CRC and to correlate it with clinical and pathological characteristics and with the mutational analysis in the DNA mismatch repair genes; 2) In cases suggestive of XS, to study the suppressor pathway (SP) of carcinogenesis.

APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case.

We report a case of somatic APC mosaicism in an person with a clinical diagnosis of Gardner syndrome with features of attenuated polyposis coli and with an uninformative family history. In initial screening for APC mutations, the germline mutation E1573X was detected in a lower proportion than that predicted by a heterozygous mutation indicating the presence of somatic mosaicism. Pyrosequencing confirmed this hypothesis and quantified the presence of the mutation in approximately 18% of the blood lymphocytes.

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.

MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype.

[Need of new clinical criteria for the identification of genetic Lynch syndrome].

Background: Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).

Aims: To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.

Colorectal adenomas in young patients: microsatellite instability is not a useful marker to detect new cases of Lynch syndrome.

Purpose: Original Bethesda Guidelines proposed microsatellite instability analysis in colorectal adenomas from patients younger than aged 40 years to identify new cases of Lynch syndrome. We intended to evaluate the characteristics of colorectal adenomas from patients younger than aged 40 years to determine their microsatellite instability status and to correlate it with germline mutations in MLH1 and MSH2 genes.

Methods: Seventy-two adenomas from 58 patients were analyzed.

[Dysphagia and dysarthria: unusual presentation of Myasthenia Gravis].

Myasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria.

[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].

MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC.

High rate of percutaneous endoscopic gastrostomy site infections due to oropharyngeal colonization.

We prospectively analyzed peristomal infection agents during the first week following percutaneous endoscopic gastrostomy (PEG) placement by the pull technique in patients with head and neck cancer. Nasal and pharyngeal swabs were obtained from a consecutive series of cancer patients prior to PEG placement. All patients underwent antibiotic prophylaxis with cefotaxime and oral disinfection.

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

In sporadic colorectal tumours the BRAFV600E is associated with microsatellite instability (MSI-H) and inversely associated to KRAS mutations. Tumours from hereditary non-polyposis colorectal cancer (HNPCC) patients carrying germline mutations in hMSH2 or hMLH1 do not show BRAFV600E, however no consistent data exist regarding KRAS mutation frequency and spectrum in HNPCC tumours. We investigated KRAS in 158 HNPCC tumours from patients with germline hMLH1, hMSH2 or hMSH6 mutations, 166 MSI-H and 688 microsatellite stable (MSS) sporadic carcinomas.