MLH1 gene promoter methylation status partially overlaps with CpG methylator phenotype (CIMP) in colorectal adenocarcinoma.

Background: RAS/BRAF mutations, mismatch DNA repair complex deficiency (MMRd)/microsatellite instability (MSI), and CpG methylator phenotype (CIMP) are key molecular actors in colorectal carcinogenesis. To date, conflicting evidence about the correlations between these molecular features has been reported.

Materials And Methods: A retrospectively selected cohort of 123 CRCs was divided into 3 groups based on the molecular characteristics: MMR proficient (MMRp)/BRAF p.

Textbook Outcome in Colorectal Surgery for Cancer: An Italian Version.

: The textbook outcome (TO) is a composite tool introduced to uniform surgical units and regulate surgical quality and outcomes. A patient is considered TO only if all predetermined items are met. In colorectal surgery, TO represents a new tool that can achieve important results given the prevalence of colorectal cancers.

Trends in colorectal cancer surgical resection rates during the screening era: a retrospective study in Italy.

Background: Faecal immunochemical test (FIT)-based screening is effective in reducing colorectal cancer (CRC) incidence, but its sensitivity for proximal lesions remains low.

Objectives: We compared age-adjusted CRC surgical resection rates across anatomic sites (proximal colon, distal colon, rectum), age groups and sex over 20 years in a large Italian population. We particularly focused on changes in trends following FIT-screening implementation in the target population (50-69 years).

Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case.

Background: Adult pancreatoblastoma (PBL) is a rare pancreatic malignancy, with recent evidence suggesting a possible link to familial adenomatous polyposis (FAP). This study aims to review the latest evidence and explore a possible association between adult PBL and FAP.

Methods: Two independent literature reviews were conducted: (1) on PBL and FAP, and (2) on PBL in the adult population not diagnosed with FAP.

Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps' number in clinical management and colorectal cancer risk.

Background & Aims: Multiple colorectal adenomas (MCRAs) can result from APC (AFAP) or biallelic MUTYH (MAP) mutations, but most patients are wild type and referred to as non-APC/MUTYH polyposis (NAMP). We aim to examine the risk of colorectal cancer (CRC) and the role of endoscopy in managing patients with MCRAs, with a specific focus on clinical features and genotype.

Methods: Records of MRCAs between 2000 and 2022 were retrospectively analysed.

Loss of Primary Cilia Potentiates Pathway Activation in Rhabdoid Colorectal Carcinoma: A Series of 21 Cases Showing Ciliary Rootlet CoiledCoil () Alterations.

A rhabdoid colorectal tumor (RCT) is a rare cancer with aggressive clinical behavior. Recently, it has been recognized as a distinct disease entity, characterized by genetic alterations in the and Ciliary Rootlet Coiled-Coil (). We here investigate the genetic and immunophenotypic profiling of 21 RCTs using immunohistochemistry and next-generation sequencing.

Impact of DNA mismatch repair proteins deficiency on number and ratio of lymph nodal metastases in colorectal adenocarcinoma.

Background: Approximately 15 % of colorectal adenocarcinomas (CRCs) are characterized by an altered expression of DNA mismatch repair (MMR) proteins (i.e. MMR deficiency [MMRd]).

Rectal Sparing Approaches after Neoadjuvant Treatment for Rectal Cancer: A Systematic Review and Meta-Analysis Comparing Local Excision and Watch and Wait.

Local Excision (LE) or Watch and Wait (WW) for patients with complete clinical response or near-complete clinical response after neoadjuvant chemoradiotherapy (nCRT) were proposed to avoid morbidity and impairment of quality of life after rectal resection. The aim of this study is to perform a systematic review of the literature, and to compare rectal-sparing approaches, in terms of rectum-preservation rate, local control, and distant recurrences. A systematic review and meta-analysis were performed of studies published until July 2022 (PROSPERO, registration CRD42022341480), and the quality of evidence was assessed using a GRADE approach.

Biallelic Mutations in a Family with Uncommon Clinical and Molecular Features.

We describe a patient with constitutional mismatch repair-deficiency (CMMR-D) in whom the syndrome started at age 10 with the development of multiple adenomas in the large bowel. In the successive 25 years, four malignancies developed in different organs (rectum, ileum, duodenum, and lymphoid tissue). The patient had biallelic constitutional pathogenic variants in the gene.

Obesity may not be related to pathologic response in locally advanced rectal cancer following neoadjuvant chemoradiotherapy.

Background: The aim of this study is to evaluate the correlation between body mass index (BMI) and body fat composition (measured with radiological fat parameters (RFP)) and pathological response after neoadjuvant chemoradiotherapy for locally advanced rectal cancer patients. The secondary aim of the study was to assess the role of BMI and RFP on major surgical complications, overall survival (OS), and disease-free survival (DFS).

Methods: All patients who underwent surgical resection following nCRT between 2005 and 2017 for mid-low rectal cancer were retrospectively collected.

Impact of colorectal cancer screening on incidence, mortality and surgery rates: Evidences from programs based on the fecal immunochemical test in Italy.

Fecal immunochemical tests (FIT) are among the most commonly used tests for colorectal cancer (CRC) screening programs worldwide. However, no randomised controlled trials have been carried out evaluating the impact of FIT-based screening programs (FIT-progr) on CRC incidence and mortality rates. Italian FIT-progr represent one of the most widespread and established experience worldwide.

Robotic Resection of Giant Duodenal Hamartoma After Fluorodeoxyglucose Positron Emission Tomography Magnetic Resonance Imaging (FDG PET-MRI).

Brunner's gland hamartoma is a rare duodenal lesion. Resection for benign neoplasms of the duodenum should be considered in case of malignant potential or in case of symptomatic lesions. An accurate preoperative staging is mandatory in order to allow minimally invasive surgical approach, and to avoid under- or overtreatment.

Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.

An expert consensus panel convened by the Italian Association for Inherited and Familial Gastrointestinal Tumors (Associazione Italiana per lo Studio della Familiarità ed Ereditarietà dei Tumori Gastrointestinali, AIFEG) reviewed the literature and agreed on a number of position statements regarding the definition and management of polyposis coli without an identified pathogenic mutation on the APC or MUTYH genes, defined in the document as NAMP (non-APC/MUTYH polyposis).

Analysis of morbidity and mortality, quality of life and bowel function after total colectomy with ileorectal anastomosis versus right and left hemicolectomy: A study to optimise the treatment of lynch syndrome and attenuated polyposis coli.

Background: The optimal surgical treatment for colonic colorectal carcinoma (CRC) in Lynch Syndrome (LS) and attenuated polyposis coli (A-FAP phenotype) patients is still debated, since there is a high risk of metachronous colonic adenomas and carcinoma after primary surgery. The aim of this study was to compare surgical outcome, functional data, and Quality of Life (QoL) after total colectomy with ileorectal anastomosis (TC-IRA) compared to right (RH) or left hemicolectomy/sigmoidectomy (LH/SI).

Methods: Patients who underwent TC-IRA (ileorectal anastomosis from 8 to 15 cm from the anal verge) for CRC and/or polyposis at our Surgical Department between 2001 and 2017 were included in the study group, and were matched one-to-one by baseline and clinical characteristics with a control group of RH and LH/SI.

Isoperistaltic Jejunal Loop Interposition after Total Gastrectomy for Gastric Cancer in Patients with Familial Adenomatous Polyposis.

Gastric cancer is a rare condition affecting patients with familial adenomatous polyposis (FAP). The mainstay of treatment is total gastrectomy. Since duodenal cancer is the most common cause of death after total colectomy in FAP, endoscopic surveillance for duodenal cancer is mandatory.

18F-FDG PET/MRI for Rectal Cancer TNM Restaging After Preoperative Chemoradiotherapy: Initial Experience.

Objective: F-FDG-PET/MRI is a novel hybrid techinque that has been recently introduced in oncological imaging, showing promising results. The aim of this study is to assess the value of whole-body F-FDG-PET/MRI for predicting the pathological stage of locally advanced rectal cancer after preoperative chemoradiotherapy.

Design: This was a prospective observational study.

Tryptophan Metabolism as Source of New Prognostic Biomarkers for FAP Patients.

Familial adenomatous polyposis (FAP), a common inherited form of colorectal cancer (CRC), causes the development of hundreds to thousands of colonic adenomas in the colorectum beginning in early adolescence. In absence of a prophylactic surgery, FAP patients almost inevitably develop CRC by the age of 40 to 50. The lack of valuable prognostic biomarkers for FAP patients makes it difficult to predict when the progression from adenoma to malignant carcinoma occurs.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Background: Inherited epimutations of Mismatch Repair (MMR) genes are responsible for Lynch Syndrome (LS) in a small, but well defined, subset of patients. Methylation of the MSH2 promoter consequent to the deletion of the upstream EPCAM gene is found in about 1%-3% of the LS patients and represents a classical secondary, constitutional and tissue-specific epimutation. Several different EPCAM deletions have been reported worldwide, for the most part representing private variants caused by an Alu-mediated recombination.

Colorectal cancer screening: The surgery rates they are a-changing. A nationwide study on surgical resections in Italy.

Background: Growing evidence suggests that colorectal cancer (CRC) screening based on the fecal immunochemical test (FIT) reduces CRC incidence and surgical resection rates.

Aims: To compare trends in surgery for proximal and distal CRC among Italian regions at different stages of screening implementation.

Methods: From the National Hospital Discharge Database we selected hospitalizations with CRC resection of residents aged 50-74 years during 2002-2014, and computed surgery rates for the 8 most populous Italian regions with/without a screening program.

Another Chapter of the : Is Primary Tumor Location a Prognostic Feature in Mutant Metastatic Colorectal Cancer?

Background: The prognostic value of primary tumor location (PTL) in patients with metastatic colorectal cancer (mCRC) was reported by recent analyses in wild-type patients. Here, we investigated the prognostic value of PTL in mutated mCRC patients.

Materials And Methods: PTL was defined as left or right if distal or proximal to the splenic flexure.