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AIM: Familial aggregation of Barrett's esophagus and its associated cancers has been termed familial Barrett's esophagus (FBE). The aim of the study was to determine whether endoscopic screening would identify Barrett's esophagus (BE) in relatives of probands with BE or esophageal adenocarcinoma (EAC). METHODS: All living first-degree relatives of patients with long segment BE or EAC presenting to the endoscopy suite of two academic hospitals were sent validated questionnaires inquiring about gastroesophageal reflux symptoms and prior endoscopic evaluation. First-degree relatives of affected probands or affected relatives who reported no prior upper endoscopy were offered screening unsedated esophagoscopy. Relatives with chronic gastroesophageal reflux symptoms were also offered an alternative of conventional sedated upper endoscopy. The yield of screening endoscopy was measured. Screening endoscopy findings were then compared between family members of known FBE patients and those with "isolated" disease. RESULTS: One hundred and ninety-eight relatives from 69 families, 23 known FBE probands and 46 probands with apparently "isolated" disease, were enrolled. Forty relatives (29 FBE relatives and 11 relatives of probands with "isolated" disease) reported prior upper endoscopy. Screening upper endoscopies performed on 62 (25 FBE and 37 "isolated" disease relatives) of the remaining 158 relatives identified Barrett's epithelium In 13 (21%). Compared to probands with apparently "isolated" disease, Barrett's epithelium (EAC, BE, or SSBE) was identified significantly more often in siblings and offspring of FBE probands, p < 0.05. Endoscopic screening of relatives of FBE probands identified a multigeneration multiplex FBE pedigree consistent with an autosomally dominant inherited trait. Endoscopic screening of relatives of probands with reported "isolated" diseased did not identify any new FBE pedigrees. CONCLUSIONS: Endoscopy identified EAC, long-segment BE, and short-segment BE in a substantial proportion of first-degree relatives of affected members of FBE families. A familial susceptibility to develop Barrett's epithelium appears to be present in a subset of patients with BE and EAC.

Background: Endoscopic optical coherence tomography provides images of the GI mucosa and submucosa in microscopic detail. It is unknown whether endoscopic optical coherence tomography can reliably detect dysplasia. Colon polyps were used as a model to determine whether dysplasia in GI tissue has characteristic optical coherence tomography imaging features. Methods: Endoscopic optical coherence tomography images of colon polyps and normal colon tissue were obtained at colonoscopy. In real time, endoscopists compared tissue organization and light scattering for polyps and normal mucosa with endoscopic optical coherence tomography. Imaged polyps were removed and evaluated histopathologically. Organization and light scattering, as assessed by endoscopic optical coherence tomography at colonoscopy, were compared for adenomas versus hyperplastic polyps. A computer program also quantified and compared the degree of light scattering for hyperplastic polyps and adenomas. Results: A total of 44 polyps were imaged in 24 patients (30 adenomas, 14 hyperplastic polyps). Endoscopic optical coherence tomography images of adenomas had significantly less structure ( p =0.0005) and scattered light to a lesser degree than hyperplastic polyps ( p =0.0007). Hyperplastic polyps were significantly closer in organization ( p =0.0003) and light scattering ( p =0.0006) to normal mucosa as compared with adenomas. By digital image analysis, the light-scattering property of hyperplastic polyps was closer to normal mucosa compared with adenomas (14.86 vs. 45.81; p =0.0001). Conclusions: Real-time endoscopic optical coherence tomography imaging differentiated adenomas, hyperplastic polyps, and normal colon tissue. By using the colon adenoma as a model, the endoscopic optical coherence tomography characteristics of dysplasia are loss of tissue organization and reduced light scattering.

Predicting Barrett's Esophagus in Families of Patients With Barrett's Esophagus: A BETRNet Model Fitting Clinical Data to a Genetic Paradigm Xiangqing Sun, Amitabh Chak, Gary W. Falk, William M. Grady, Margaret F. Kinnard, sumeet K. mittal, Marcia I. Canto, Nicholas J. Shaheen, Jean S. Wang, Prasad G. Iyer, Julian A. Abrams, Joseph Willis, Sanford Markowitz, Jill Barnholtz-Sloan, Wendy Brock, Robert Elston

This review has focused on the unique role of radionuclide scintigraphy in characterization of hepatic mass lesions. Radionuclide scintigraphy, unlike most other imaging modalities, is based on specific physiological and biochemical properties of each pathological entity that affects the liver. Hepatic scintigraphy, with its widespread availability, noninvasive nature, and relatively low cost is a powerful adjunct to other imaging techniques in the investigation of hepatic mass lesions. We have reviewed clinical presentation and characteristic findings of most hepatic lesions and have described reported findings with all available imaging modalities with particular emphasis on hepatic scintigraphy (Table 1) as well as a suggested algorithm for workup of solid hepatic masses (Fig 6). Additionally, the role of newer, more specialized techniques including PET scanning, 123I-labeled VIP, and 111In-labeled DTPA-D-Phe-octreotide scanning are reviewed. Hepatic nuclear scintigraphy continues to play an important role in the management of patients with solid hepatic masses.

Familial aggregation of esophageal adenocarcinomas, esophagogastric junction adenocarcinomas, and their precursor Barrett's esophagus (BE) has been termed familial BE (FBE). Numerous studies documenting increased familial risk for these diseases raise the hypothesis that there may be an inherited susceptibility to the development of BE and its associated cancers. In this study, using segregation analysis for a binary trait as implemented in S.A.G.E. 6.0.1, we analyzed data on 881 singly ascertained pedigrees to determine whether FBE is caused by a common environmental or genetic agent and, if genetic, to identify the mode of inheritance of FBE. The inheritance models were compared by likelihood ratio tests and Akaike's A Information Criterion. Results indicated that random environmental and/or multifactorial components were insufficient to fully explain the familial nature of FBE, but rather, there is segregation of a major type transmitted from one generation to the next (P

Introduction: Preliminary investigations suggest that Barrett's esophagus (BE) and esophageal adenocarcinoma (ECA) may have a genetic predisposition. Aim: To determine whether patients with BE or ECA have an increased prevalence of BE and/or ECA in their families. Methods: Patients with BE and ECA were identified through a pathology database at a university hospital. The diagnosis of BE or ECA was reconfirmed by an experienced gastrointestinal pathologist. The control group consisted of a cohort of patients enrolled in a pharmacotherapy study of esophagitis. All control subjects had gastroesophageal reflux symptoms and endoscopic evidence of esophagitis without BE or ECA. Patients and controls were given a standardized questionnaire (modified Mayo GERQ) about severity and duration of reflux symptoms, risk factors, and detailed family history. Prevalence of a family history of BE or ECA was compared between index patients and control subjects. Results: Questionnaires were returned by 18/54 (33%) in the BE/ECA group and 24/46 (52%) in the control group. Four (22%) index patients in the BE/ECA group compared to none (0%) in the control group reported at least one first- or second- degree relative with BE or ECA (p = 0.03, Fischer's exact). One patient reported 2 first-degree relatives (1 ECA and 1 BE), and another reported an identical twin with BE. Compared to the control group, the BE/ECA group tended to be older (mean age, 62 years vs. 55 years, p 30 kg/m2) were not significantly different between the two groups. Conclusions: Patients with Barrett's esophagus or esophageal adenocarcinoma are more likely to have a family history of BE or ECA compared to GERD patients without BE. Prospective studies to determine the prevalence of BE in family members of patients with BE or ECA are needed.