Current Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.

Data on care of pediatric patients with hereditary polyposis syndromes (HPS) including Familial Adenomatous Polyposis (FAP), Juvenile Polyposis Syndrome (JPS), and Peutz-Jeghers Syndrome (PJS) is limited. We aim to describe the current practice patterns for HPS. An anonymous survey was distributed to pediatric gastroenterologists, pediatric surgeons, and adult colorectal surgeons.

Gastric Polyposis and Cancer in Western Patients With Familial Adenomatous Polyposis: Epidemiology, Detection, and Management.

Patients with familial adenomatous polyposis (FAP) are at increased risk of developing cancer, with the most common sites being colorectal, duodenal/ampullary and thyroid. In the last decade, an alarming increase in gastric cancer has been reported in the Western FAP population. These cancers are often diagnosed at an advanced stage with poor prognosis, even in patients undergoing regular upper endoscopic surveillance.

Prevalence of Pathogenic Germline Variants in Patients With Gastric Cancer Ascertained Through Multigene Panel Testing.

Purpose: The prevalence of pathogenic/likely pathogenic germline variants (PGVs) in gastric cancer (GC) predisposition genes is not well understood. We aimed to determine this in patients with GC undergoing germline genetic testing at a large commercial laboratory.

Methods: This was a cross-sectional study.

Clinical Validation of a Circulating Tumor DNA-Based Blood Test to Screen for Colorectal Cancer.

Importance: Colorectal cancer screening is widely recommended but underused. Blood-based screening offers the potential for higher adherence compared with endoscopy or stool-based testing but must first be clinically validated in a screening population.

Objective: To evaluate the clinical performance of an investigational blood-based circulating tumor DNA test for colorectal cancer detection in an average-risk population using colonoscopy with histopathology as the reference method.

Worldwide Impact of Upper Gastrointestinal Disease in Familial Adenomatous Polyposis.

Familial adenomatous polyposis (FAP) is the most common hereditary colorectal adenomatous polyposis and cancer syndrome which has historically been associated with a near absolute risk of colorectal cancer. However, the morbidity and mortality from colorectal cancer has been greatly diminished by pre-symptomatic genetic testing which identifies affected individuals and by appropriately timed, risk-reducing surgery of the colorectum. Following colorectal surgery, cancer risk beyond the retained rectum or ileal pouch includes other gastrointestinal organs, especially those of the upper gastrointestinal tract.

Photodocumentation of Large Colorectal Polyps: An Audit of Image Quality.

Background: Numerous guidelines recommend photodocumentation (PD) of large colorectal polyps ≥10 mm (LP) preresection relative to an open snare or forceps, and suggests postresection PD of the clear resection base. However, no quality metrics have been proposed. We recently reported that preresection and postresection PD occurred in 82% and 52% of 1693 resected LPs, respectively; however, the quality of PD was not ascertained.

Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment.

Colorectal cancer can be prevented in most patients with FAP by performing (procto)colectomy and lifelong endoscopic surveillance. Subsequently, the challenge is to prevent duodenal and gastric cancer. Duodenal cancer is one of the most common FAP-related causes of death and, in the last decade, the incidence of gastric cancer has increased.

Colonoscopy findings in CDH1 carriers from a multicenter international study.

Germline (likely-)pathogenic variants (PV) in CDH1 predispose carriers to hereditary diffuse gastric cancer and lobular breast cancer. Previous studies from the United States suggest CDH1 variant carriers have an increased risk for adenomas or sessile serrated lesions (SSL), yet data linking CDH1 PVs and colorectal neoplasia are scarce. We aimed to investigate colonoscopy findings in CDH1 PVs.

Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer.

Gastric cancer is a significant global health concern, with CDH1-associated gastric cancer representing a small but important subset of cases. Historically, individuals with CDH1 pathogenic germline variants were advised to undergo prophylactic total gastrectomy due to the high reported risk of gastric cancer and the limited sensitivity of upper endoscopy in detecting signet ring cell carcinoma (SRCC). However, emerging data suggest that the cumulative lifetime risk of advanced gastric cancer among CDH1 germline pathogenic variant carriers is lower than previously thought, and early-stage SRCC detected on endoscopy does not necessarily indicate imminent-or even eventual-progression to advanced cancer.

Optimizing bowel preparation quality for colonoscopy: consensus recommendations by the US Multi-Society Task Force on Colorectal Cancer.

This document is an update to the 2014 recommendations for optimizing the adequacy of bowel cleansing for colonoscopy from the US Multi-Society Task Force on Colorectal Cancer, which represents the American College of Gastroenterology, the American Gastroenterological Association, and the American Society for Gastrointestinal Endoscopy. The US Multi-Society Task Force developed consensus statements and key clinical concepts addressing important aspects of bowel preparation for colonoscopy. The majority of consensus statements focus on individuals at average risk for inadequate bowel preparation.

Optimizing Bowel Preparation Quality for Colonoscopy: Consensus Recommendations by the US Multi-Society Task Force on Colorectal Cancer.

This document is an update to the 2014 recommendations for optimizing the adequacy of bowel cleansing for colonoscopy from the US Multi-Society Task Force on Colorectal Cancer, which represents the American College of Gastroenterology and the American Society for Gastrointestinal Endoscopy. The US Multi-Society Task Force developed consensus statements and key clinical concepts addressing important aspects of bowel preparation for colonoscopy. The majority of consensus statements focus on individuals at average risk for inadequate bowel preparation.

Optimizing Bowel Preparation Quality for Colonoscopy: Consensus Recommendations by the US Multi-Society Task Force on Colorectal Cancer.

This document is an update to the 2014 recommendations for optimizing the adequacy of bowel cleansing for colonoscopy from the US Multi-Society Task Force on Colorectal Cancer, which represents the American College of Gastroenterology, the American Gastroenterological Association, and the American Society for Gastrointestinal Endoscopy. The US Multi-Society Task Force developed consensus statements and key clinical concepts addressing important aspects of bowel preparation for colonoscopy. The majority of consensus statements focus on individuals at average risk for inadequate bowel preparation.

Taking the Guess Work Out of Endoscopic Polyp Measurement: From Traditional Methods to AI.

Colonoscopy is a crucial tool for evaluating lower gastrointestinal disease, monitoring high-risk patients for colorectal neoplasia, and screening for colorectal cancer. In the United States, over 14 million colonoscopies are performed annually, with a significant portion dedicated to post-polypectomy follow-up. Accurate measurement of colorectal polyp size during colonoscopy is essential, as it influences patient management, including the determination of surveillance intervals, resection strategies, and the assessment of malignancy risk.

A Score to Predict Advanced Colorectal Neoplasia in Adults Younger than Age 45.

Background: Early-onset colorectal cancer (CRC) requires identifying adults at heightened risk of advanced colorectal neoplasia (AN) who may warrant colonoscopy initiation < age 45 years.

Aims: We aim to develop and validate a model estimating the likelihood of AN in adults age < 45 years.

Methods: We performed a cross-sectional analysis of adults' ages 18-44 years who underwent a colonoscopy between 2011 and 2021 at a tertiary center.

Management Considerations in a Patient With a Germline Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery.

Individuals with a germline pathogenic variant in the gene have a lifetime risk of advanced diffuse gastric cancer (DGC) of up to 10.3% and a 37%-52% risk of breast cancer, specifically the lobular subtype. Guidelines recommend prophylactic gastrectomy between ages 18-40 years for those with a family history of DGC.

Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology.

Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing.

Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1.

To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in CDH1 PV carriers with family history of DGC between 18 and 40 years.

Metachronous Colorectal Neoplasia in Young Adults With Advanced Neoplasia Undergoing Colonoscopy: A Comparison of Risk by Age <45 Years Versus 45 to 49 Years.

Background: The risk of metachronous advanced colorectal neoplasia (mACRN) in young adults with advanced lesions at baseline colonoscopy is not well defined.

Aims: To examine the risk for (mACRN) in adults <50 years old who had advanced neoplasia (AN) at baseline colonoscopy and determine factors associated with mACRN in these patients.

Method: Patients 18 to 49 years of age with ≥1 AN [tubular adenoma (TA) ≥10 mm or with villous features or high-grade dysplasia (HGD), sessile serrated lesion (SSL) ≥10 mm or with dysplasia, traditional serrated adenoma (TSA)] on baseline colonoscopy between 2011 and 2021 who had surveillance colonoscopy >6 months after their baseline examination were included.