Hereditary neuroendocrine tumors of the gastroenteropancreatic system

Abstract

Approximately 5-10% of neuroendocrine tumors (NETs) of the gastroenteropancreatic system (GEP) have a hereditary background. The known inherited syndromes include multiple endocrine neoplasia type 1, neurofibromatosis type 1, von Hippel-Lindau disease, and the tuberous sclerosis complex. This review discusses for each of these syndromes the: (1) involved genes and specific types of mutations, (2) disease prevalence and penetrance, (3) affected neuroendocrine tissues and related clinical syndromes, (4) special morphological features of NETs and their putative precursor lesions. In addition, GEP-NETs clustering in individual families or associated with other malignancies without known genetic background are discussed.

Classification and pathology of gastroenteropancreatic neuroendocrine neoplasms

“…They are rare in children (Crain & Thorn 1949). Most PanNETs are sporadic, but some may occur in inherited disorders such as MEN1, VHL and NF1 (Anlauf et al 2007a). PanNENs that are poorly differentiated (PanNECs) are rare , Hruban et al 2007).…”

“…Analysing the development of NENs of the pancreas and duodenum in multiple endocrine neoplasia type 1 (MEN1) it was found that a hyperplastic preprogrammed (i.e. hormonally differentiated) neuroendocrine cell that carries the germ line mutation of the MEN1 gene gives rise to welldifferentiated low-grade malignant neoplasms by allelic loss of the 11q13 region of the chromosome 11 (Anlauf et al 2007a,b, Perren et al 2007). In contrast, in poorly differentiated NENs, which are on the other end of the differentiation spectrum of NENs, the cell of origin is most likely close to the intestinal stem cell.…”

Endoscopic Ultrasound-Guided Resection of Somatostatinoma of the Ampulla of the Major Duodenal Papilla in the Patient With Inherited Neurofibromatosis

“…Соматостатино-мы составляют менее 1 % от всех опухолей ЖКТ [10]. Зачастую, соматостатинома сопутствует на-следственным заболеваниям: НФ 1, множествен-ной эндокринной неоплазии 1-го типа, синдрому Гиппель -Линдау и проявляется наличием объем-ного образования в поджелудочной железе (70 %) и только в 3 % случаев вовлекает ампулу Фатерова соска [11].…”

Gastrointestinal stromal tumours in patients with type 1 neurofibromatosis

“…Only 0.2 to 0.3% of all gastrointestin REVIEWS n n 250 n 2009 n Volume 3, Number 2 nal carcinoids are localised to this region, but a quarter of these is associated with von Recklinghausen's disease [26,33,34]. Concomitant occurrence of NF1-GIST -neuroendocrine tumour has been reported in 11 cases, almost exclusively in the periampullary region [11,16,18,24,[35][36][37][38][39]. Characteristically these tumours show functional inactivity, and they have a relatively good prognosis [35].…”

“…Concomitant occurrence of NF1-GIST -neuroendocrine tumour has been reported in 11 cases, almost exclusively in the periampullary region [11,16,18,24,[35][36][37][38][39]. Characteristically these tumours show functional inactivity, and they have a relatively good prognosis [35]. At the same localisation carcinoma was observed in one case [40].…”