PMID- 32035641
OWN - NLM
STAT- MEDLINE
DCOM- 20210217
LR  - 20210217
IS  - 0242-6498 (Print)
IS  - 0242-6498 (Linking)
VI  - 40
IP  - 2
DP  - 2020 Apr
TI  - [Inherited tumor syndromes of gastroenteropancreatic and thoracic neuroendocrine 
      neoplasms].
PG  - 120-133
LID - S0242-6498(20)30024-9 [pii]
LID - 10.1016/j.annpat.2020.01.002 [doi]
AB  - 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.
CI  - Copyright (c) 2020 Elsevier Masson SAS. All rights reserved.
FAU - Couvelard, Anne
AU  - Couvelard A
AD  - Departement de pathologie, hopital Bichat, 75018 Paris, France.
FAU - Scoazec, Jean-Yves
AU  - Scoazec JY
AD  - Departement de biologie et pathologie medicales, institut Gustave-Roussy, 114, 
      rue Edouard-Vaillant, 94805 Villejuif cedex, France. Electronic address: 
      jean-yves.scoazec@gustaveroussy.fr.
LA  - fre
PT  - Journal Article
PT  - Review
TT  - Syndromes de predisposition aux tumeurs neuroendocrines 
      gastro-entero-pancreatiques et thoraciques.
DEP - 20200205
PL  - France
TA  - Ann Pathol
JT  - Annales de pathologie
JID - 8106337
RN  - Gastro-enteropancreatic neuroendocrine tumor
RN  - Multiple Endocrine Neoplasia, Type IV
SB  - IM
MH  - Duodenal Neoplasms/diagnosis
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Intestinal Neoplasms/complications/diagnosis/genetics/pathology
MH  - Intestines/pathology
MH  - Multiple Endocrine Neoplasia/complications/diagnosis/genetics/pathology
MH  - Multiple Endocrine Neoplasia Type 1/complications/diagnosis/genetics/pathology
MH  - *Neoplastic Syndromes, Hereditary/complications/diagnosis/pathology
MH  - Neuroendocrine Tumors/complications/diagnosis/genetics/*pathology
MH  - Pancreas/pathology
MH  - Pancreatic Neoplasms/complications/diagnosis/genetics/pathology
MH  - Stomach Neoplasms/complications/diagnosis/genetics/pathology
MH  - Thoracic Neoplasms/diagnosis
MH  - Thorax/pathology
MH  - Tuberous Sclerosis/etiology/pathology
MH  - von Hippel-Lindau Disease/complications/diagnosis/genetics/pathology
OTO - NOTNLM
OT  - MEN1
OT  - MEN4
OT  - NEM1
OT  - NF1
OT  - Neuroendocrine neoplasms
OT  - Syndrome VHL
OT  - TSC
OT  - Tumeurs neuroendocrines
OT  - VHL syndrome
EDAT- 2020/02/10 06:00
MHDA- 2021/02/18 06:00
CRDT- 2020/02/10 06:00
PHST- 2019/12/12 00:00 [received]
PHST- 2020/01/12 00:00 [accepted]
PHST- 2020/02/10 06:00 [pubmed]
PHST- 2021/02/18 06:00 [medline]
PHST- 2020/02/10 06:00 [entrez]
AID - S0242-6498(20)30024-9 [pii]
AID - 10.1016/j.annpat.2020.01.002 [doi]
PST - ppublish
SO  - Ann Pathol. 2020 Apr;40(2):120-133. doi: 10.1016/j.annpat.2020.01.002. Epub 2020 
      Feb 5.