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

Abstract

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.

Gastroenteropancreatic Neuroendocrine Tumors

“…Individuals with a family history of NET in a first‐degree relative have a 3.6‐fold increased risk of disease . In a prospective evaluation of 129 individuals who had at least 2 blood relatives affected by small intestinal NETs, 29 had small bowel NETs identified by screening procedures . No environmental risk factors have been definitively identified so far.…”

ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumours: Surgery for Small Intestinal and Pancreatic Neuroendocrine Tumours

“…Because of their inconspicuous size and deep submucosal location, primary siNETs are rarely incidentally diagnosed or before metastases have developed, and thus, patients often present with advanced disease [27] . Occult lesions can be detected early with aggressive screening among patients with a family history of siNETs [27] .…”

“…Occult lesions can be detected early with aggressive screening among patients with a family history of siNETs [27] . More than 80% of these patients have multifocal disease and one-third present a stage III disease.…”

Update on Surgical Management of Small Bowel Neuroendocrine Tumors

“…In this case, an aggressive approach is recommended, especially in those with a family history of si-NENs (86). Lack of symptomatic disease is by no means a contradiction for surgery (30).…”