Prospective evaluation and treatment of familial carcinoid small intestine neuroendocrine tumors (SI-NETs).

BACKGROUND: The aim of this study was to prospectively screen patients with a positive family history of carcinoid small intestine neuroendocrine tumors (SI-NETs) to elucidate the benefits of early detection and operative intervention. METHODS: A single-center, prospective trial was conducted from 2008 to 2014 that evaluated patients with 2 or more blood relatives with carcinoid SI-NETs. All eligible patients were screened with urine/serum biochemistries and various imaging modalities. Operative intervention was elected in patients found to have at least 1 positive diagnostic study. RESULTS: Twenty-nine patients from 13 families had occult carcinoid SI-NETs (15 female, 14 male). Twenty-four of the 29 patients (83%) had multifocal disease found in either the distal jejunum or ileum. On average, 75.9 cm (range, 13-195) of bowel was resected in 1 segment. Three patients were found to have stage IV disease at operation. All stage I-IIIB patients who had R0 resections have remained disease-free, with a median follow-up of 35 months. CONCLUSION: Familial carcinoid SI-NETs often are asymptomatic and can be diagnosed with aggressive screening. With early detection, there may be a window of opportunity for operative resection to change the natural history of this disease and even prove to be curative.

Adenocarcinoma of the appendix is rarely detected by colonoscopy.

INTRODUCTION: Appendiceal tumors represent a subset of colonic neoplasms that frequently defy early diagnosis only to present at advanced stage with peritoneal metastasis. Data on early detection by colonoscopy is limited to case reports or series. The aim of this study is to determine the diagnostic yield of colonoscopy in detecting appendiceal lesions in patients with appendiceal adenocarcinoma and pseudomyxoma peritonei. METHODS: We reviewed clinicopathologic data on 121 consecutive patients with histologically confirmed appendiceal adenocarcinoma with pseudomyxoma peritonei presenting to our institution for intraperitoneal hyperthermic chemotherapy (IPHC) and cytoreductive surgery between February, 1993 and August, 2007, focusing on the colonoscopy findings. RESULTS: Preoperative colonoscopic data were available on 64 patients (average age = 51; 52 for IPHC patients). Abnormal findings included seven patients with appendiceal lesions (11%), 12 patients with cecal abnormalities (19%), and 28 patients with polyps (44%). Twenty-three patients (36%) had a normal colonoscopy. Malignancy was documented in two of the 64 (3.1%) patients on preoperative colonoscopy biopsies. CONCLUSIONS: Appendiceal abnormalities are infrequently seen on colonoscopy and rarely yield a diagnostic biopsy in patients with appendiceal carcinoma. We found that nearly 42% of patients with carcinoma of the appendix have synchronous colonic polyps, a much higher prevalence than would be expected, supporting a role for a perioperative colonoscopy.