Priyanka Kanth

Background: Familial adenomatous polyposis (FAP) is associated with colorectal and extracolonic malignancy risk. Although duodenal surveillance is well established for establishing risk of malignancy, monitoring gastric dysplasia using esophagogastroduodenoscopy (EGD) is less clearly characterized as a mechanism for risk management. We aimed to characterize gastric pathology findings and factors associated with gastric dysplasia in patients with FAP. Methods: We performed a retrospective cohort study of adults with clinically or genetically confirmed FAP using electronic health records from MedStar Health, a multihospital health system in the Washington, DC, metropolitan area, between 2000 and 2025. No patients in the confirmed cohort (N=188) had attenuated FAP. Patients were initially identified through an electronic health record search using ICD-10 coding for FAP and subsequently confirmed by medical chart review based on a documented adenomatous polyposis coli mutation or classic clinical criteria (>100 colorectal adenomas). Kaplan-Meier methods estimated incident gastric dysplasia after index EGD. Fisher exact test assessed the association between gastric polyp presence and dysplasia. Results: Among 188 identified patients, 150 had confirmed FAP, and 93 had EGD follow-up. Fundic gland polyps were identified in 64 (69%) of 93 patients, and gastric dysplasia was identified in 26 (28%) of 93 patients. Seven patients had gastric dysplasia at index EGD; the remaining 86 entered the incident time-to-event analysis, of whom 19 developed incident gastric dysplasia during a median 5 years of follow-up. Estimated cumulative incidence was 0.0%, 2.1%, 4.3%, and 18.5% at 1, 3, 5, and 10 years, respectively. Patients without incident gastric dysplasia were censored at their last EGD; therefore, not all patients were seen through 10 years of follow-up. Gastric dysplasia occurred in 26 of 72 patients with gastric polyps and in 0 of 21 without polyps (36.1% vs 0.0%; Fisher exact test, P <.001). No gastric adenocarcinoma was observed. Conclusions: Gastric dysplasia was common among patients with FAP undergoing EGD surveillance and was significantly associated with gastric polyp presence. These findings support longitudinal endoscopic assessment of patients with FAP, incorporating gastric polyp burden and histology. The prevalence of gastric polyps in patients with FAP and the association between presence of gastric polyps and incidence of gastric dysplasia are consistent with results from a fuller analysis from this study.

In 2020, the U.S. Multi-Society Task Force (USMSTF) extended the surveillance interval for patients with 1-2 small (< 10 mm) tubular adenomas from 5-10 years to 7-10 years following a high-quality baseline colonoscopy. Whether longer intervals affect polyp yield at repeat colonoscopy remains unclear. From 9,300 patients who underwent colonoscopy in 2015 within the MedStar Health system, we identified individuals with 1-2 small tubular adenomas who subsequently completed surveillance colonoscopy. Patients were identified using ICD-10 codes and manual chart review. Extracted variables included demographics, BMI, smoking status, NSAID use, race/ethnicity, family history of colorectal cancer (CRC), Boston Bowel Preparation Score, withdrawal time, pathology results, and surveillance interval. Patients were stratified into two groups: < 7 years vs ≥ 7 years between baseline and repeat colonoscopy. Primary outcomes were the detection of any polyp and neoplastic polyps (precancerous, advanced adenoma, SSL etc.). Group differences were evaluated using Wilcoxon rank-sum and Fisher's exact tests. A total of 399 patients met the inclusion criteria (326 < 7 years; 73 ≥ 7 years). Median follow-up time was 4.4 years vs 8.0 years, respectively (p < 0.001). Baseline characteristics-including age, gender, race/ethnicity, BMI, smoking status, NSAID use, and family history of CRC-were similar between groups, with no statistically significant differences (all p > 0.05). Procedure quality indicators such as Boston Bowel Preparation Score and withdrawal time, were also comparable. At repeat colonoscopy, patients with ≥ 7-year intervals had numerically higher rates of any polyp detection (67% vs 57%; p = 0.15) and neoplastic polyps (55% vs 48%; p = 0.30), though these differences were not statistically significant. Among patients with 1-2 small, low-risk tubular adenomas, extending the surveillance colonoscopy interval to ≥ 7 years did not significantly increase the detection of neoplastic polyps compared with earlier surveillance. Given the similar baseline characteristics and quality metrics between interval groups, these findings support the safety of the 2020 USMSTF recommendation for a 7-10 year surveillance interval. Larger studies may clarify whether delayed surveillance meaningfully affects advanced neoplasia risk.

Low-phospholipid–associated cholelithiasis (LPAC) syndrome is a rare ABCB4 -related cholestatic disorder characterized by recurrent biliary symptoms and intrahepatic lithiasis. A 55-year-old woman with recurrent intrahepatic hepatolithiasis underwent multiple endoscopic retrograde cholangiopancreatographies with lithotripsy and stenting without durable stone clearance, ultimately requiring right hepatic lobectomy. Postoperative genetic testing identified a heterozygous ABCB4 variant, confirming LPAC syndrome, and ursodeoxycholic acid therapy was initiated with subsequent clinical stability. This case highlights an atypical late-onset LPAC presentation and diagnostic challenges when imaging findings are subtle. LPAC should be considered in recurrent intrahepatic stones regardless of age.

Introduction: Gastrointestinal neuroendocrine tumors (GI NETs) represent 1–2% of malignancies arising in the digestive tract, and the incidence has increased in recent years due to greater use of diagnostic tools. However, institution-level patterns in GI NET case counts and survival remain undercharacterized. Objective: This study aims to evaluate demographic and site-specific case count patterns and survival outcomes across a large multi-hospital healthcare system. Methods: We conducted a retrospective cohort study of 1,813 patients diagnosed with GI NETs across MedStar Health from November 2012 to September 2024. Cases were identified using the International Classification of Diseases (ICD) codes. Tumors were categorized as benign, malignant, or mixed coding history based on ICD patterns. Case counts were stratified by sex, race, age, and tumor site. Survival analyses used unadjusted Kaplan–Meier curves and log-rank tests to compare tumor categories and six anatomical sites (appendix, large intestine, pancreas, rectum, small intestine, stomach). Results: GI NET case counts increased over the study period, with higher counts observed among women and individuals aged 51–74 years. Most diagnoses occurred in White (45.8%) and Black (40.7%) patients. Small-intestinal and rectal NETs were the most frequently identified. Survival patterns showed that female sex, White race, younger age, and benign tumors were associated with the most favorable outcomes. Among all anatomical sites, rectal NETs demonstrated the highest long-term survival. Conclusion: This large institutional study highlights meaningful demographic and site-specific variation in GI NET case counts and descriptive survival patterns. These findings underscore the need for future research addressing access-related and sociodemographic contributors to GI NET outcomes.

Since the early 1990s, there has been a dramatic rise in gastrointestinal cancers diagnosed in patients under age 50 for reasons that remain poorly understood. The most significant change has been the increase in incidence rates of early-onset colorectal cancer, especially rates of left-sided colon and rectal cancers. Increases in gastric, pancreatic, and other gastrointestinal cancer diagnoses have further contributed to this trend. We formed a multidisciplinary Think Tank to develop a strategic, coordinated approach to studying early-onset gastrointestinal cancers. This area of research is challenging given multifactorial etiologies. We focused on epidemiology and the environment, the microbiome, and survivorship as key pillars to structure a research framework. We advocate a comprehensive strategy to (1) use existing biospecimens, especially those collected longitudinally, with correlation to exposures (the exposome); (2) standardize microbiome specimen collection and analyses of blood, tissue, and stool specimens to minimize contamination and biases; (3) prioritize mechanistic studies to evaluate findings from biomarker studies; and (4) explore the unique survivorship needs of this young population. These recommendations build upon prior efforts with the goal of streamlining research into this important field of study while minimizing redundant efforts. We hope that our findings serve as a clarion call to motivate others to discover why young individuals are being diagnosed with gastrointestinal cancers at such an alarming rate and how to best support those who have been diagnosed.

PURPOSE: New guidelines recommend considering germline genetic testing for all patients with colorectal cancer (CRC). However, there is a lack of data on stakeholders' perspectives on the advantages and barriers of implementing universal germline testing (UGT). This study assessed the perspectives of members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC) regarding the implementation of UGT for patients with CRC, including readiness, logistics, and barriers. METHODS: A cross-sectional survey was sent to 317 active members of CGA-IGC. The survey included sections on demographics, clinical practice specialty, established institutional practices for testing, and questions pertaining to support of and barriers to implementing UGT for patients with CRC. RESULTS: Eighty CGA-IGC members (25%) participated, including 42 genetic counselors (53%) and 14 gastroenterologists (18%). Forty-seven (59%) reported an academic medical center as their primary work setting, and most participants (56%) had more than 10 years of clinical practice. Although most participants (73%) supported UGT, 54% indicated that changes in practice would be required before adopting UGT, and 39% indicated that these changes would be challenging to implement. There was support for both genetics and nongenetics providers to order genetic testing, and a majority (57%) supported a standardized multigene panel rather than a customized gene panel. Key barriers to UGT implementation included limited genetics knowledge among nongenetics providers, time-consuming processes for obtaining consent, ordering tests, disclosing results, and lack of insurance coverage. CONCLUSION: This study demonstrates wide support among hereditary GI cancer experts for implementation of UGT for patients with CRC. However, alternative service delivery models using nongenetics providers should be considered to address the logistical barriers to UGT implementation, particularly the growing demand for genetic testing.