Family History Of Gastrointestinal Cancer Research Articles

Maternal and perinatal outcomes of pregnant patients with colorectal cancer: a population-based study.

This study aimed to investigate the maternal and perinatal outcomes of pregnant patients with CRC using a large population-based database. A retrospective cohort study was conducted using the Nationwide Inpatient Sample (NIS) from 2009 to 2019. Pregnant patients with and without CRC were compared for demographic characteristics, comorbidities, maternal and perinatal outcomes, and hospital burden. The study included 306 pregnancies with CRC and 40,887,353 pregnancies without CRC. Pregnant patients with CRC were older and more likely to be White. A significant association was observed between CRC and a history of inflammatory bowel disease or a family history of gastrointestinal cancer. Pregnant patients with CRC had higher odds of maternal death (AOR 260.99, 95% CI 33.36-2041.64), cardiac arrhythmia (AOR 13.73, 95% CI 4.21-44.76), acute kidney injury (AOR 32.6, 95% CI 5.29-200.77), severe sepsis (AOR 163.98, 95% CI 22.05-1219.65), and respiratory failure (AOR 31.67, 95% CI 4.11-243.98). Furthermore, the CRC group experienced higher odds of cesarean section (AOR 1.78, 95% CI 1.05-3.03), preterm birth (AOR 4.16, 95% CI 2.05-8.47), and intrauterine death (AOR 13.18, 95% CI 3.33-52.16). Distinct differences in maternal and perinatal outcomes were observed based on the location of CRC. Pregnant patients with CRC faced higher hospital charges and had longer hospital stays during delivery hospitalization compared to those without CRC. Pregnant patients with CRC are at increased risk for adverse maternal and perinatal outcomes, emphasizing the importance of early detection, timely intervention, and comprehensive management during pregnancy.

Systemic Diseases and Gastrointestinal Cancer Risk.

Gastrointestinal (GI) cancers are the second leading cause of cancer-related deaths worldwide. The global challenges GI cancers pose are high, especially in middle- and low-income countries. Patients with these cancers present with symptoms of poor appetite, weight loss, heartburn, abdominal pain, fatigue and anaemia. Several risk factors contribute to GI cancers, including age, gender, obesity, pathogenic infections, smoking cigarettes, alcohol consumption and dietary habits. Most of these cancers are sporadic. However, some patients are at high risk due to a family history of GI cancers. Systemic diseases affect multiple organs, and their chronic occurrence elicits inflammatory responses at various sites. These diseases also contribute to GI cancers. In this review, we discuss that untreated systemic diseases, including diabetes, hepatitis, acquired immune deficiency syndrome, ulcers and hypertension, can potentially lead to GI cancers if they remain untreated for a longer period. Systemic diseases initiate oxidative stress, inflammatory pathways and genetic manipulations, which altogether confer risks to GI cancers. Here, we describe the association between systemic diseases and their underlying mechanisms leading to GI cancers.

S2160 Treacherous Telescoping: A Unique Presentation of Malignant Intussusception

Introduction: Intussusception occurs when a segment of bowel telescopes into an adjacent segment of bowel. Adult intussusception is rare (5% of cases) but has significant mortality if not managed urgently. Given that malignancy causes 80% of adult intussusception, a high level of suspicion for intussusception when evaluating colonic masses is essential. This clinical vignette describes how intussusception - even when presenting atypically via gastrointestinal (GI) bleed - can be diagnosed. Case Description/Methods: A 38-year-old male presented with one month of hematochezia, melena, abdominal cramps, decreased appetite, and weight loss. He had no hematemesis or cardiovascular risk factors. The patient had no history of H. pylori infection, NSAID use, surgery, or family history of GI cancer. He was hemodynamically stable without abdominal tenderness or peritoneal signs. Melena was in the rectum. Relevant labs were hemoglobin 10.6, white blood cell count 12,400, and platelets 866K. Chest x-ray and EGD were unremarkable. Colonoscopy revealed an ulcerated, necrotic transverse colon (TC) mass obstructing the lumen. The scope failed to be advanced proximal to the mass. The remainder of the distal lumen was unremarkable without signs of ischemia. Biopsy showed a poorly differentiated adenocarcinoma. An urgent CT demonstrated a bowel-within-bowel appearance of the proximal TC, suggesting intussusception. The patient had a right hemicolectomy with ileocolic anastomosis. Surgical pathology confirmed adenocarcinoma invading the muscularis propria. He is currently undergoing oncological evaluation (Figure). Discussion: This case highlights the importance of a high clinical suspicion for intussusception when encountering obstructing, necrotic colonic masses. Our patient is decades younger than the median intussusception patient and the colo-colonic location is present in only 5% of cases. His lower GI bleed is uncommon as was the lack of bowel obstruction symptoms. The colonoscopy however, was typical for intussusception; there was no mucosal ischemia or bowel telescoping. CT is the diagnostic modality of choice, capturing the classic “bowel-in-bowel” appearance with 75% accuracy. In intussusception due to cancer, surgical resection is first-line management. Ultimately, evaluating for intussusception with a CT abdomen is imperative in any patient with intestinal malignancy, even without signs of ischemia on endoscopy.Figure 1.: A: CT Abdomen with contrast transverse view shows the bowel within bowel configuration of the transverse colon near the hepatic flexure. Mass within the transverse colon served as the lead point for the intussusception. B: CT Abdomen with contrast coronal view demonstrates similar findings of transverse colon intussusception with “sausage-like” appearance. The remainder of the small bowel and colon was not dilated, suggesting partial obstruction. C: Colonoscopy image of the necrotic, ulcerated circumferential mass obstructing the lumen of the transverse colon. The obstructing nature of the mass can be seen in this image. D: Colonoscopy image of the necrotic, ulcerated circumferential mass in the transverse colon. In this image, necrotic and ulcerated components of the mass can be seen.

S2321 Esophageal Button Battery Retrieval: Time-In May Not Be Everything

Introduction: Management of ingested foreign bodies is a challenging task given differences in type and presentation. Ingested button batteries cause injury via electrical discharge, corrosive contents, and toxicity. The European Society of Gastrointestinal Endoscopy recommends endoscopic retrieval within 12-24 hours for objects longer than 6 cm. Conservative monitoring can be instituted for blunt objects less than 6 cm in length and 2.5 cm in diameter, or post pyloric. Due to risks of fistulas, perforation, and vocal cord paralysis, ingested button battery cases are handled emergently. However, we present an unusual case that demonstrated significantly delayed endoscopic removal of an ingested button battery without complication. Case Description/Methods: A 45-year-old male with no medical history presented 4 days after ingestion of ‘2 magnets’. He had dysphagia and difficulty eating solid foods, but remaining review of systems was negative. He denied tobacco or alcohol use, and no family history of gastrointestinal cancers. Vitals were normal. His abdomen was benign. Visualization of his oropharynx was unremarkable. Labs did not demonstrate leukocytosis or anemia. Imaging revealed one radiopaque body in the esophagus at T1 level and one in the rectum. Endoscopic removal of the object was delayed until day 6 given patient’s initial refusal. A 20mm button battery was found in the esophagus and removed with a roth net (Figure panel 1). Mild localized mucosal necrosis was noted underlying the object (Figure panel 2). He tolerated oral intake later that evening. Discussion: The management of foreign bodies is a challenge due to technical difficulties of endoscopic retrieval and unpredictable outcomes. As seen in this case, the excessive duration of time post button battery ingestion did not correlate to severity and complications expected. Despite its larger diameter of 20 mm, the button battery only caused mild mucosal necrosis. This case demonstrates that esophageal dwell time alone is not an independent risk factor and may not correlate with severity of injury. There are risks associated with performing emergent endoscopic procedures including availability of staff, abbreviated time for full preoperative evaluation, and logistic challenges. It is important to identify when procedures can be performed under controlled circumstances. Our case contributes to the fund of knowledge regarding delayed endoscopic foreign body removal of a button battery but should not be used to guide current management without additional data.Figure 1.: 1: Identification of a 20mm button battery in the upper esophagus. 2: Mild localized necrosis of the esophageal mucosa directly underlying the object.

Risk Factors for Colorectal Adenocarcinoma in an Indigenous Population in East Africa.

IntroductionThe incidence of colorectal cancer (CRC) is increasing in East Africa. Changes in lifestyle and dietary changes, particularly alcohol consumption, smoking, and consumption of cooked meats with a reduction in fibre in the diet may be responsible. The objective of our study was to determine the risk factors responsible for CRC in Uganda.MethodsWe recruited 129 participants with histologically proven colorectal adenocarcinoma and 258 control participants from four specialized hospitals in central Uganda from 2019 to 2021. Controls were block matched for age (±5 years) and sex of the case participants. The risk factor variables included; area of residence, tribe, body mass index (BMI), smoking, alcohol consumption and family history of gastrointestinal cancer. We used conditional or ordinal logistic regression to obtain crude and adjusted odds ratios for risk factors associated with CRC.ResultsIn bivariate analysis, case participants were more likely to be associated with urban residence (cOR:62.11; p<0.001); family history of GI cancer (cOR: 14.34; p=0.001); past smokers (cOR: 2.10; p=0.080); past alcohol drinkers (cOR: 2.35; p=0.012); current alcohol drinkers (cOR: 3.55; p<0.001); high BMI 25–29.9 kg/m2 (cOR: 2.49; p<0.001); and high BMI ≥30kg/m2 (cOR: 2.37; p=0.012). In the multivariate analysis, urban residence (aOR: 82.79; p<0.001), family history of GI cancer (aOR: 61.09; p<0.001) and past smoking (aOR: 4.73; p=0.036) were independently associated with a higher risk of developing CRC.ConclusionA family history of gastrointestinal cancer was a risk factor for CRC. While population-based CRC screening may not be feasible in low income-countries, targeted CRC screening for first-degree relatives with CRC should be considered in East Africa. Molecular genetic studies need to be carried out to determine the role of hereditary factors in our population. Prevention strategies should be adopted to avoid smoking in our population which was associated with an increased risk of CRC.

Vitamin D receptor gene variations and their haplotypic association: Possible impact on gastric cancer risk.

Vitamin D receptor (VDR) gene alterations have been associated with the occurrence and prognosis of various types of cancers, but only few studies have focussed on gastric cancer (GC) risk. This case-control study was conceived to evaluate possible association of VDR polymorphisms (Fok1, Taq1, and Cdx2) with GC risk. A total of 293 subjects, including 143 GC patients and 150 controls were included in this study. The genotypes were elucidated by polymerase chain reaction-restriction fragment length polymorphism followed by DNA sequencing. The frequency of Fok1 genotypes (TC and TT) was found higher in GC cases compared to controls (P ≤ 0.05). In the stratified analysis, we observed a significant association of the (CT + TT) variant with GC risk in males, rural dwellers, smokers, and preobese cases, and those having no family history of Gastrointestinal cancer (P ≤ 0.05). In silico analysis predicted that the Fok1 variant impacts the stability and functional efficiency of the protein. Some exact haplotypes (CCG and CCA) of the VDR gene may act as low penetrance alleles in inclination to GC. VDR Fok1 polymorphism is significantly associated with GC risk in the Kashmiri population. Specific haplotypes in the VDR gene could act synergistically in the development of GC.

Patterns of colorectal cancer (CRC) screening rates among the average risk U.S. population.

65 Background: There is consensus that the proportion of the average-risk US population up-to-date with CRC screening (58-65%) is insufficient. However, estimates of average risk CRC screening rates are inconsistent and impacted by inclusion of higher-risk individuals, and differing study designs. Accurate measurement of population screening rates is key to addressing gaps in care and assessing the impact of newer CRC screening tests. Methods: The study included individuals aged 50-75 years in a large de-identified claims database, with continuous enrollment during year of analysis, and a variable length baseline enrollment of 1-10 years. Average-risk designation excluded higher risk diagnoses (CRC familial syndromes, colorectal polyp or history of colorectal polyp, history of/current CRC, family history of gastrointestinal cancer, and inflammatory bowel disease). Up-to-date status was assessed within guideline-based time periods: colonoscopy (10 years); FIT or FOBT (annually); mt-sDNA (3 years); flexible sigmoidoscopy/CT colonography (5 years). Analyses assessed the proportion estimated as up-to-date and examined the sensitivity to: a) patient population (average-risk only vs. including higher-risk); b) study design (yearly cross-sectional vs. cohort of 50-year-old patients; c) methods (percent in patients with 10 years of enrollment vs. Kaplan Meier (KM) of censored variable pre-screening period). Results: The cross-sectional analysis average-risk population included 5.3 million individuals. Estimates of the proportion of those up-to-date with screening guidelines for average-risk patients varied by study design, population, and estimation method. KM estimates among the average-risk population (50-75) showed 49-50% were up-to-date in each calendar year. Including higher-risk patients in the KM analysis resulted in 70% up-to-date among the mixed average+higher-risk population. Using a cohort study design (average-risk patients aged 60 with 10 years of baseline data), 65% were up-to-date by age 60. Conclusions: In the base case analysis only half of average risk individuals were up-to-date with CRC screening, a rate lower than typically cited. Sensitivity analyses resulted in substantially different estimates and demonstrate the importance of clearly communicating the methodology used to define the study population. Higher rates quoted in the lay press and medical publications may be based on mixed populations of average+higher-risk individuals or on study designs that do not represent the full population at risk.

Association of cancer prevention awareness with liver cancer screening participation rates among a high-risk population: results from rural Anhui Province.

Association of cancer prevention awareness with liver cancer screening participation rates among a high-risk population: results from rural Anhui Province.

Helicobacter pylori infection in Iran: demographic, endoscopic and pathological factors

BackgroundHelicobacter pylori (H. pylori) infection is the most important risk factor for gastritis and peptic ulcer. However, factors other than H. pylori are involved in its pathogenesis. In the current study, we aimed to compare the clinical manifestations and endoscopic and histopathological findings of patients with and without H. pylori infection.MethodsIn this cross-sectional study, 233 patients with dyspepsia, referred for endoscopy, were examined regarding the presence of H. pylori infection. During an endoscopic exam, 5 biopsy specimens were taken from the stomach. The criteria for the presence of H. pylori infection was the presence and identification of bacteria in pathology. Two groups of H. pylori-positive and H. pylori-negative patients were compared regarding their demographic, endoscopic, and pathological findings.ResultsOf 233 patients, 154 (66.1%) were non-smokers, 201 (86.3%) were not alcohol users, and 153 (65.7%) used tap water. The most common symptom, reported in 157 (67.4%) patients, was epigastric pain. There was a significant difference between patients with and without H. pylori infection in terms of the educational status, occupational status, family history of gastrointestinal cancer, and some gastrointestinal symptoms. Also, there was a significant relationship between the endoscopic and pathological findings of patients with H. pylori.ConclusionsThe results of the present study revealed that H. pylori infection was not associated with sex, alcohol consumption, or non-steroidal anti-inflammatory drug use. The role of H. pylori in the pathophysiology of peptic ulcer was clarified. Also, there was a significant difference in the endoscopic and pathological findings of patients with H. pylori.

Association of Vitamin D receptor gene variations with Gastric cancer risk in Kashmiri population.

Vitamin D receptor (VDR) mediates cellular processes like cell cycle arrest and apoptosis which effect cancer susceptibility. VDR single nucleotide polymorphisms (SNPs) have a significant influence on functioning of VDR protein and subsequently contribute to the risk of cancer occurrence and progression. The present case-control study was carried out between 2016 and 2020 to investigate the association of VDR BsmI/ApaITaqI SNPs with Gastric Cancer (GC) risk in ethnic Kashmiri population not only for establishing a molecular marker for GC but also to facilitate the outcomes of personalized medicine in future. The polymorphisms of BsmI and ApaI of the VDR gene were evaluated using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism followed by Di-Deoxy Sanger sequencing in 143 GC cases and 150 controls. The mean age (in years) was 53.5 ± 7.92 and 51.2 ± 8.25 and mean Body mass index was 22.68 ± 4.27kg/m2 and 23.81 ± 3.71kg/m2 for cases and controls respectively. The mean CEA levels of GC cases was 40.2 ± 10.9ng/ml. Genotypic distribution of VDR BsmI differed significantly between GC cases and controls (GG vs GA + AA; adjusted P = 0.014) and followed dominant mode of inheritence. Stratification of VDR BsmI revealed that frequency of variant genotype (GA + AA) was significantly higher in Preobese GC cases (P = 0.001), GC patients consuming < 5 cups of salt tea/day (P < 0.0001) and with no family history of gastrointestinal cancer (P = 0.014) compared to healthy controls. ATC haplotype associated with high GC risk. In conclusion, our study suggests that VDR BsmI SNP has a significant association with increased risk of GC especially in preobese population and BsmI/ApaITaqI SNPs significantly decreased the overall survival in GC patients of Kashmiri population.

Investigating the association between rs6983267 polymorphism and susceptibility to gastrointestinal cancers in Iranian population.

Genome-wide association studies have revealed that some single nucleotide polymorphisms at 8q24, such as rs6983267, might be effective in susceptibility to various cancers in different populations. Therefore, rs6983267 might be useful as a marker for multiple cancers. In this study, we considered a population, including 478 gastrointestinal cancer cases from the Iranian population, to investigate the association between rs6983267 and susceptibility to gastrointestinal cancers. The samples were genotyped using the TaqMan real-time PCR method while 10% of them were also confirmed by sequencing. Higher frequency of G allele was associated with higher grades of tumors in esophageal cancer and the tumors located in the lower portion of the esophagus (OR 3.56; 95% CI 1.13-11.24; P = 0.03) and cardia (OR 5.24; 95% CI 1.26-21.83; P = 0.02), which both locations are involved in esophageal adenocarcinomas with poor prognosis. The results indicated that in the male subgroup, the rs6983267 GG genotype significantly enhanced the gastric cancer susceptibility (OR 4.76; 95% CI 1.57-14.45; P = 0.01). GG genotype alsoincreased the risk of intestinal-type gastric cancer, located in non-cardia (OR 4.62; 95% CI 1.25-17.04; P = 0.02). Moreover, gastric cancer cases and controls with a family history of gastrointestinal tumors were mostly genotyped with the G allele (OR 3.61; 95% CI = 1.09-12.01; P = 0.04). There were no remarkable associations between rs6983267 and susceptibility to esophageal and colon cancers in the Iranian population. However, different genotypes of rs6983267 had significant correlations with tumor grade, cancer type, and family history of gastrointestinal cancers. Further investigations in a larger population and other ethnicities are required to confirm these results.

S3380 Mucosal Prolapse Syndrome: Case Report and Literature Review

INTRODUCTION: Mucosal prolapse is a rare condition that consists of protrusion of the rectal mucosa through the anal sphincter. This condition comprises, solitary rectal ulcer syndrome, adenocarcinoma, hamartomas, inflammatory cloacogenic polyp, inflammatory myoglandular polyp, and proctitis cystica. It is prevalent among males (3:1) and typically found in the 4-6 decades of life, the patient presents with hematochezia, tenesmus, partial incontinence, constipation, or can be asymptomatic. Surface erosion of the mucosa can occur as well as inflammation, hemorrhage, and fibrosis. Histologic features are disruption of the muscular mucosal and fibromuscular repair on the lamina propia. CASE DESCRIPTION/METHODS: The patient is a 23 year old female with a medical history of sickle cell trait and family history of gastrointestinal cancer and polyps who presented to the outpatient clinic complaining of rectal bleeding accompanied by anemia. Skin tags and large external hemorrhoids were noted on digital rectal exam (DRE). A colonoscopy was then scheduled. This was later done revealing, but was limited due to the inability to advance the scope beyond 20 cm, with evidence of a large, indurated and ulcerated mass in the rectal area measuring approximately 4 cm. Additionally a circumferential, indurated lesion 8-10 cm from anal verge was found with multiple biopsies performed to rule out malignancy (Figure 1). The biopsy results showed fragmented hyperplastic colonic mucosa showing fibrosis and smooth muscle strands in the lamina propia, consistent with mucosal prolapse syndrome (Figure 2). The patient was then referred to colorectal surgery due to hemorrhoids and prolapsed polyps near the anal verge. A hemorrhoidectomy was performed shortly thereafter for symptomatic relief. DISCUSSION: Mucosal prolapse syndrome is the presenting sign of a variety of conditions, as the differential diagnosis is broad. Among almost all cases colonoscopy will allow for direct visualization and treatment of polyps and ulcerations. Biopsies will confirm the etiology in most of the cases. These conditions present with constipation, leading to spastic contraction, which ultimately leads to congestion. Histologically, there is an overlap with the findings seen among all the mentioned etiologies. Findings such as fibromuscular obliteration, glandular crypt abnormalities, and gland dilation are reported and mimicking of adenomas and adenocarcinomas. The primary purpose is to rule out malignancy and then establish surveillance.Figure 1.: Colonoscopy showing an indurated mass in the rectal area.Figure 2.: Fragmented hyperplastic colonic mucosa showing fibrosis and smooth muscle strands in the lamina propria.

S1811 A Rare Case of Synchronous Squamous Cell Tumors of the Rectum: Diagnosis and Management

INTRODUCTION: Colorectal squamous cell carcinoma (SCC) is an extremely rare form of colon cancer, accounting for 0.1–0.2% of the cases. It has a female predominance, with a mean age of 57 years old at diagnosis. It is often diagnosed at an advanced stage. We present a case of two simultaneous SCC tumors of the rectum which were managed successfully with multidisciplinary approach. CASE DESCRIPTION/METHODS: A 65 year old female with remote history of left breast ductal carcinoma in situ, in remission after lumpectomy and adjuvant chemoradiation therapy several years ago, presented with intermittent hematochezia. She denied having any constitutional symptoms. Her previous colonoscopy was eight years prior and was unremarkable. There was no family history of gastrointestinal cancer. She rarely drank alcohol and did not smoke cigarettes. During rectal exam, a large mass was palpated in the rectum, without any palpable anal abnormalities. Labs showed normal CBC, LFTs and renal function. She underwent a colonoscopy which revealed an exophytic and friable 4 cm mass in the distal rectum. A separate subepithelial mass was seen at the rectosigmoid junction, with ulcerated mucosa overlying the lesion. The intervening rectum between the 2 distinct masses and the portion of the rectum distal to the rectal mass were both normal. Separate biopsies were taken of the two masses, and pathology revealed invasive, moderately differentiated squamous cell carcinoma with HPV positivity (Image 1). Imaging for staging did not reveal any metastases. The patient received neoadjuvant radiation and chemotherapy (Mitomycin C and 5-Fluorouracil). Post-treatment abdominal imaging showed significant response to therapy (Image 2). Subsequently, the patient underwent a laparoscopic hand assisted proctosigmoidectomy with colonic pouch anal anastomosis and diverting loop ileostomy. Pathology showed complete resolution of tumor at primary sites while carcinoma cells were found in one of the resected lymph nodes (Image 3). DISCUSSION: Colorectal SCC occurs mostly in the distal half of the colon, mainly at the rectosigmoid junction. While isolated colorectal SCCs are rare, our case is even more unique given the presence of synchronous colorectal SCC tumors. HPV infection is associated with colorectal SSC in past literature. To decrease the risk of SCC recurrence, neoadjuvant chemoradiation followed by surgical resection is the mainstay of treatment while recent evidence suggests that chemoradiation alone may be definitive therapy in some cases.Figure 1.: Colonoscopy showing submucosal mass with overlying ulcerated mucosa (arrow) at the rectosigmoid junction (A) and exophytic, friable mass seen in the distal rectum (B). Rectal mass biopsy H & E stain (20X) showing full thickness squamous atypia with lack of maturation consistent with squamous cell carcinoma (C) while diffuse nuclear p40 stain positivity (10X) supporting squamous origin (D) and strong p16 staining (10X) indicative of HPV-associated squamous cell carcinoma (E).Figure 2.: MRI abdomen showing submucosal mass (see arrow) at rectosigmoid junction with compression of lumen (A) and intraluminal mass (see arrow) in distal rectum (B). After chemotherapy and radiation, the mass at rectosigmoid has reduced to scar tissue with T2 hypointensity (C) while mass in distal rectum has completely resolved (D).Figure 3.: H & E stain (20X) showing no residual tumor identified in treated colon of patient with history of squamous cell carcinoma in (A) while treatment effect shown with numerous macrophages, few multinucleated giant cells (black arrow), lymphocytes and small vessel with hyaline changes (blue arrow) in B, and CD68 stain highlights macrophages within the area of treatment response (C). H & E stain (20X) showing lymph node with metastatic carcinoma showing treatment effect and viable tumor cells (arrows) within necrotic debris in lymph node in (E) while CK AE1/3 immunohistochemistry stain (20X) highlighting/confirming metastatic carcinoma with both viable tumor cells and necrotic cells expressing pancytokeratin.

S1894 Atypical Presentation of Esophageal Squamous Cell Carcinoma Mimicking Severe Diffuse Esophagitis

INTRODUCTION: Esophagitis is a well-known condition described as an inflammation of the esophagus. There are various etiologies, including infectious, noninfectious, GERD (gastroesophageal reflux disease) being the most common. It is a fairly common condition, 14% of the patients undergoing esophagogastroduodenoscopy (EGD) are found to have esophagitis. Typical GERD symptoms and heartburn being the most common features, dysphagia and odynophagia being less common. It has a male predominance and usually occurs in older individuals. Hiatal hernia is a commonly associated finding in about 79-88% of patients. The most common complications are stenosis, ulcers, and Barrett esophagitis, which can progress to adenocarcinoma. However the squamous cell carcinoma (SCC) presenting as diffuse esophagitis in the absence of a mass or lesion is rare.We present a case of diffuse severe esophagitis in a patient with known grade 4 esophagitis and which was later found to be SCC of the esophagus on pathology of the routine biopsies. CASE DESCRIPTION/METHODS: A 61-year-old man presented to the gastroenterology clinic for dysphagia of 3 months duration to both solids and liquids. He had heartburn and weight loss of 15 pounds unintentionally. He had a prior history of hypertension. He also had a screening colonoscopy in the past which was unremarkable except right sided diverticulosis and internal hemorrhoids. He was a current smoker but denied using alcohol except on social occasions or illicit drugs. He did not have a family history of gastrointestinal cancers. His physical examination and laboratory tests were unremarkable. He underwent EGD which revealed Grade D esophagitis in the entire esophagus and random biopsies were done of the 3 segments of esophagus. Histopathology revealed high grade dysplasia and carcinoma in situ. Patient underwent endoscopic ultrasound (EUS) of esophagus which revealed a focal lesion. EUS guided fine needle aspiration (FNA) showed SCC of the esophagus. Patient underwent chemotherapy and radiotherapy and continues to follow up. DISCUSSION: Squamous cell carcinoma usually presents as a mass or a lesion seen endoscopically. However, it rarely presents as severe diffuse esophagitis seen on routine endoscopy. According to our observation, it would be reasonable for physicians to bear this unusual endoscopic presentation in mind and perform multiple random biopsies if encountered with such a case to rule out the possibility of any underlying malignancy.Figure 1.: Diffuse severe esophagitis in the lower third of esophagus on endoscopy.Figure 2.: Diffuse esophagitis in the upper third of the esophagus on endoscopy.

Abstract A049: Program for the identification, management and monitoring of patients and families at high risk of cancer in a Colombian National Cancer Reference Institution

Abstract Cancer is the second cause of mortality due to noncommunicable diseases in Colombia. In 2015 incident cases of breast (BC), gastric (GC), colorectal (CRC), and ovarian cancer (OC) attended at the Colombian National Cancer Institute (NCI) were 685, 498, 470, and 127, respectively. Although hereditary cancer syndromes are the minority of all cancer cases, the precise identification of individuals and relatives at high risk is a key aspect to the implementation of surveillance/screening, chemoprevention, and preventive surgery strategies for affected and unaffected carriers. In our country there are few studies conducted on hereditary cancer, and little is known about the spectrum of syndromes affecting Colombian families. In the Colombian NCI, we have designed and develop a comprehensive program for the registration, identification, diagnosis, management, and surveillance of cancer cases at high risk. Two main strategies where defined within this pilot program: 1) adjustment of the international protocols to the institutional context for identification and referral criteria of cancer patients with suspected syndrome to genetic counseling, genetic testing criteria, management, and surveillance, and 2) implementation of an institutional registry of patients with hereditary cancer, among other strategies. Also, first-degree relatives (FDR) of the affected carriers are offered to be tested and followed through the Center for Cancer Prevention and Early Detection (CPRED), recently established by the Colombian NCI. This Institutional ongoing program is providing genetic risk assessment to an average of 20 cancer patients per week since April 2018. The most frequent cancer we have attended is BC (56%), followed by CRC (10.5%), OC (6%), GC (5.5%), and others (22%). The average age at diagnosis was 47.3 for BC, 50.6 for CRC, 33.6 for OC, 39.4 for GC, and 47.8 years old (yo) for other cancers. Genetic testing has been offered to the patients according to the international guidelines. From all BC cases, the following fulfilled the Hereditary Breast and Ovarian Cancer (HBOC) criteria: i) 44.3% were diagnosed ≤ 45 yo, ii) 24% were diagnosed with triple-negative breast cancer (TNBC) at ≤ 60 yo, iii) 4% were TNBC cases diagnosed at &amp;gt; 60 yo + ≥ 1 FDR/second-degree relative with BC at &amp;lt; 50 yo, iv) 8% were patients with bilateral BC, v) 4% had a second primary tumor, and vi) 1.3% had Ashkenazi Jewish ancestry. From CRC cases, 50% were diagnosed at &amp;lt; 50 yo regardless of family history of gastrointestinal cancers and 30% were diagnosed at ≥ 50 yo and fulfilled criteria for Lynch or Li Fraumeni syndromes. In the case of GC, 60% of the patients had diffuse gastric cancer subtype at &amp;lt; 50 yo. Finally, all OC cases were submitted for genetic testing since all were diagnosed at &amp;lt; 50 yo; 43% were tested for HBOC since they corresponded to papillary serous subtype and 29% fulfilled criteria for Peutz Jeghers syndrome. To our knowledge, this is the first genetic cancer risk assessment program in the country, based in the largest Colombian cancer hospital. Citation Format: María Carolina Sanabria-Salas, Gonzalo Guevara-Pardo, Antonio Huertas, Vilma Medina, Ana Lucía Rivera-Herrera, Juan Carlos Mejía, Jesús Acosta, Carolina Wiesner-Ceballo. Program for the identification, management and monitoring of patients and families at high risk of cancer in a Colombian National Cancer Reference Institution [abstract]. In: Proceedings of the Eleventh AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2018 Nov 2-5; New Orleans, LA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl):Abstract nr A049.

The use of electronic healthcare records for colorectal cancer screening referral decisions and risk prediction model development

BackgroundThe database used for the NHS Bowel Cancer Screening Programme (BCSP) derives participant information from primary care records. Combining predictors with FOBTs has shown to improve referral decisions and accuracy. The richer data available from GP databases could be used to complement screening referral decisions by identifying those at greatest risk of colorectal cancer. We determined the availability of data for key predictors and whether this information could be used to inform more accurate screening referral decisions.MethodsAn English BCSP cohort was derived using the electronic notifications received from the BCSP database to GP records. The cohort covered a period between 13th May 2009 to 17th January 2017. Completeness of variables and univariable associations were assessed. Risk prediction models were developed using Cox regression and multivariable fractional polynomials with backwards elimination. Optimism adjusted performance metrics were reported. The sensitivity and specificity of a combined approach using the negative FOBT model plus FOBT positive patients was determined using a probability equivalent to a 3% PPV NICE guidelines level.Results292,059 participants aged 60–74 were derived for the BCSP screening cohort. A model including the screening test result had a C-statistic of 0.860, c-slope of 0.997, and R2 of 0.597. A model developed for negative screening results only had a C-statistic of 0.597, c-slope of 0.940, and R2 of 0.062. Risk predictors included in the models included; age, sex, alcohol consumption, IBS diagnosis, family history of gastrointestinal cancer, smoking status, previous negatives and whether a GP had ordered a blood test. For the combined screening approach, sensitivity increased slightly from 53.90% (FOBT only) to 58.82% but at the expense of an increased referral rate.ConclusionsThis research has identified several potential predictors for CRC in a BCSP population. A risk prediction model developed for BCSP FOBT negative patients was not clinically useful due to a low sensitivity and increased referral rate. The predictors identified in this study should be investigated in a refined algorithm combining the quantitative FIT result. Combining data from multiple sources enables fuller patient profiles using the primary care and screening database interface.

Family history (FH) of gastrointestinal (GI) cancer and behavioral risks: Analysis of an Internet-based risk assessment tool.

807 Background: Certain behaviors are known modifiable risk factors for development of GI cancers. The relationship between family history (FH) of GI cancers and individuals’ behaviors is not well understood, but is important for risk assessment/ counseling. Methods: The OncoLink “Reduce My Risk” tool is a publicly available online survey created in 2009 to provide customized information regarding cancer risk. Details of this survey have been reported; research is IRB-approved. Differences between those with v. without FH of GI cancers were analyzed using chi-square test. Results: 28,001 surveys were submitted. Median age was 26y (18-101), 60% female, 87% lived in North America, 76% White/Non-Hispanic, 64% reported FH of cancer. Individuals with FH of CRC reported eating less red meat (31% v. 34%, p = 0.007), processed grains (55% v. 59%, p &lt; 0.001), or charred meats (14% v. 19%, p &lt; 0.001), but were equally likely to be vegetarian (9% v. 10%, p = 0.059). Those with FH of esophageal cancer were more likely to have GERD (16% v. 9%), smoke &gt; = 1 pack per day (7% vs. 4%) and drink alcohol (63% v. 55%) (p &lt; 0.001 for all). Those with FH of gastric cancer were more likely to have H. Pylori or gastric ulcers (5% v. 3%, p &lt; 0.001), but no difference in the consumption of smoked/salted foods (27% v. 25%, p = 0.20). Those with FH of HCC reported no differences in alcohol consumption (56% v. 55%, p = 0.41) or hepatitis B virus (HBV) vaccination (62% v. 62%, p = 0.66). Those with FH of anal cancer were more likely to have receptive anal intercourse (26% v. 16%, p &lt; 0.001) but showed no differences in human papillomavirus (HPV) vaccination (21% v. 22%, p = 0.91). Those with FH of HCC (15% v. 13%, p = 0.035), gastric (16% v. 13%, p = 0.001), esophageal (17% v. 13%, p &lt; 0.001), and anal (21% vs. 13%, p &lt; 0.001) cancers were more likely to be smokers; those with a FH of CRC were less likely (11% v. 13%, p = 0.006), and those with FH of pancreatic (12% vs. 13%, p = 0.71) or cholangiocarcinoma (15% vs. 13%, p = 0.59) showed no difference. Conclusions: Many individuals with a FH of GI cancers engage in behavioral and other modifiable risk factors that increase risk for GI and other cancers. Future work should explore utility of targeted intervention and screening.

Dysphagia in a young female patient: it’s not always that simple

A 42-year-old female patient was referred to our gastroenterology department with a 4-month history of weekly symptoms of dysphagia for solids and liquids. The patient also reported occasional symptoms of...

1274 An Unusual Case of Sarcoidosis Involving the Pancreas

INTRODUCTION: Sarcoidosis is a multisystem disease primarily involving the lung. Skin, eyes, lymph nodes, spleen, liver, bones, exocrine glands, heart, kidneys, and central nervous system are the most common extrapulmonary sites involved. Clinically apparent gastrointestinal (GI) sarcoidosis is rare involving 0.1 to 0.9 percent of patients with sarcoidosis. The most commonly involved portion of the GI tract is the stomach, although sarcoidosis of the esophagus, appendix, colon, rectum, and pancreas have been reported in the literature. CASE DESCRIPTION/METHODS: A 73-year-old African American male was found to have pancreatic duct dilation on a computed tomography scan of abdomen done for investigation of mild epigastric abdominal pain that started a few months prior to presentation. He described the pain as dull, non-radiating, aggravated when hungry, subsided with food intake and associated with bloating. He had a past medical history of hypertension, hypothyroidism, and sarcoidosis involving lymph nodes and liver (not on treatment). He had no family history of GI cancer. He was a non-smoker and non-alcoholic. On presentation, his vital signs were normal; his abdomen was soft and non-tender, with normoactive bowel sounds and no masses or organomegaly. He had a normal calcium level of 9.7 mg/dL and his liver panel was significant for slightly elevated serum alkaline phosphatase, AST, ALT levels, with normal serum bilirubin. Magnetic resonance imaging showed 1.2 cm mass in the body of the pancreas obstructing the pancreatic duct and another 1.1 cm mass in the head of the pancreas concerning for malignancy. He underwent endoscopic ultrasonography with fine needle aspiration cytology of both pancreatic masses which showed numerous non-caseating granulomas consistent with sarcoidosis. Special stains for fungi and tuberculosis were negative. DISCUSSION: Less than 30 cases of biopsy-proven pancreatic sarcoidosis have been reported in the literature. Patients can have direct involvement of pancreas with sarcoidosis or 1, 25-dihydroxy vitamin D3 mediated hypercalcemia causing hypercalcemic pancreatitis. About three fourths of patients with pancreatic sarcoidosis have bilateral hilar adenopathy on chest radiography. On imaging, these patients demonstrate either a pancreatic mass (or masses) or a diffuse nodular pancreas. A biopsy is essential to distinguish between sarcoidosis, mycobacterial or fungal infection, and cancer. Treatment is usually conservative or with glucocorticoids.

1601 Cecal Granular Cell Tumour: An Uncommon Site of an Uncommon Tumour

INTRODUCTION: Granular Cell Tumors (GCTs) are tumors arising from Schwann cells of the nerve sheath. They occur at an incidence of about 0.03% and have a predilection for the skin, oral cavity, and breasts. Only 6-8% of all GCTs occur in the GI tract with the esophagus (65%) being the most common site, followed by the colorectum (25%). Less than 20 cases of cecal GCTs have been reported so far. Owing to its rarity, we report a case of an asymptomatic cecal GCT found incidentally during screening colonoscopy. CASE DESCRIPTION/METHODS: A 58-year-old male with no known past medical history presented to the Gastrointestinal (GI) clinic for screening colonoscopy. History was negative for alarm symptoms, including no family history of GI cancers. He had no prior Upper endoscopy or colonoscopy. Physical examination and labs were unremarkable. Colonoscopy revealed an 8mm yellowish, sessile, subepithelial nodule with normal overlying mucosa in the cecum (Figure 1). Biopsy showed clusters of cells with granular cytoplasm that was Periodic acid–Schiff (PAS) positive suggestive of GCT (Figure 2). Immunohistochemical staining was positive for S100, CD 68, calretinin thus confirming the diagnosis of GCT (Figure 3). The patient has since been scheduled for Endoscopic ultrasound (EUS) for further evaluation. DISCUSSION: Colorectal GCTs account for up to 25% of all GI GCTs, with most affecting the right sided colon (cecum and ascending colon). Mostly benign and solitary, but about 2% are known to have malignant potential with poor prognosis. More common in females and in African Americans between ages 40-60 years. Generally asymptomatic and found incidentally during a screening colonoscopy, however in a few cases, patients have presented with hematochezia, abdominal pain, and change in bowel habits. EUS is invaluable in differentiating GCTs from other subepithelial tumors, in determining the size, and depth of invasion. Definitive diagnosis is by histopathology and immunohistochemical staining. There is no general consensus on the management of colorectal GCTs. Conservative management is recommended for tumors &lt; 1cm, asymptomatic, with no deep tissue invasion or malignancy. However, resection is warranted for symptomatic tumors, tumors &gt;1 cm in size, deep tissue invasion or malignancy. Endoscopic removal is preferred over surgery for tumors without deep tissue infiltration or malignancy. Endoscopic and histologic surveillance every 1-2 years is recommended.