[Inherited tumor syndromes of gastroenteropancreatic and thoracic neuroendocrine neoplasms].

Publication date: Feb 05, 2020

About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Two rare syndromes have a high incidence of NENs: multiple endocrine neoplasia type 4 (MEN4), with a tumour spectrum similar to that of MEN1, and glucagon cell hyperplasia neoplasia (GCHN), involving only the pancreas. It is likely that other syndromes remain to be characterized, especially in familial small-intestinal NENs. The diagnosis is usually raised because of the suggestive clinical setting: young age at diagnosis, multiple tumours in multiple organs, familial history. Except in VHL and NF1, tumours themselves do not show specific pathological features; they usually are well differentiated and of low histological grade; their prognosis is good, except for MEN1-associated thymic NENs. The most suggestive pathological feature is their combination with various endocrine and/or non endocrine lesions in the adjacent tissue. Pathological examination is important, for a correct diagnosis and for an accurate management of the patients and their families, who must be referred to expert centers.

Couvelard, A. and Scoazec, J.Y. . 20184. 2020 Ann Pathol.

Concepts Keywords
Bronchial Tumor
Duodenal Tumour syndrome
Endocrine Autosomal dominant disorders
Glucagon Medicine
Histological Hereditary cancers
Hyperplasia Organ systems
Incidence Clinical medicine
Lindau Genodermatoses
MEN1 Multiple endocrine neoplasia
Multiple Endocrine Neoplasia MEN1
Neoplasia Syndromes
Neoplasms Von Hippel–Lindau disease
Neuroendocrine Neurofibromatosis
Neurofibromatosis Draft:Endocrine Cancer
Tuberous Sclerosis


Type Source Name
disease MESH tumor
disease MESH syndromes
disease MESH multiple endocrine neoplasia type 1
disease MESH von Hippel-Lindau syndrome
disease MESH neurofibromatosis type 1
disease MESH somatostatinomas
disease MESH tuberous sclerosis
disease MESH multiple endocrine neoplasia
drug DRUGBANK Glucagon
disease MESH hyperplasia
disease MESH diagnosis

Original Article

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