PMID- 23778871
OWN - NLM
STAT- MEDLINE
DCOM- 20150120
LR  - 20211021
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 22
IP  - 2
DP  - 2014 Feb
TI  - A MEN1 syndrome with a paraganglioma.
PG  - 283-5
LID - 10.1038/ejhg.2013.128 [doi]
AB  - Germline mutations of the MEN1 gene cause multiple endocrine neoplasia type 1 
      (MEN1), an autosomal dominant disorder characterized by tumors of the 
      parathyroids, the pancreas, and the anterior pituitary. Paraganglioma (PGL) is a 
      rare endocrine tumor, which can be sporadic or genetically determined. To date, 
      PGL has never been reported as a feature of MEN1.We report here a patient 
      presenting three features of MEN1 syndrome (hyperparathyroidism, pancreatic 
      neuroendocrine tumor, and adrenocortical adenoma) associated with PGL. Genetic 
      analysis of MEN1 gene revealed a new missense mutation in exon 5 (AGGshort right arrowAAG), 
      causing the substitution of arginine by lysine at codon 275. Screening for other 
      genetic disorders (SDHx, TMEM127, MAX, CDKN1B) causing PGL was negative. 
      Immunohistochemical analyses showed normal levels of succinate dehydrogenase 
      (SDH)A and SDHB in the PGL. The proband's sister, bearing the mutation, had 
      primary hyperparathyroidism. It was the first typical MEN1 syndrome reported with 
      an extra-adrenal PGL.
FAU - Jamilloux, Yvan
AU  - Jamilloux Y
AD  - 1] Department of Internal Medicine A, University Hospital of Limoges, Limoges, 
      France [2] Department of Internal Medicine B, Endocrinology and Metabolic 
      Diseases, University Hospital of Limoges, Limoges, France.
FAU - Favier, Judith
AU  - Favier J
AD  - 1] INSERM, UMR970, Paris Cardiovascular Research Center at HEGP, Paris, France 
      [2] Medicine Faculty, University of Paris Descartes, Paris, France.
FAU - Pertuit, Morgane
AU  - Pertuit M
AD  - APHM - Conception, Laboratory of Molecular Biology, Aix-Marseille University, 
      Marseille, France.
FAU - Delage-Corre, Manuela
AU  - Delage-Corre M
AD  - Department of Pathology, University Hospital of Limoges, Limoges, France.
FAU - Lopez, Stephanie
AU  - Lopez S
AD  - Department of Internal Medicine B, Endocrinology and Metabolic Diseases, 
      University Hospital of Limoges, Limoges, France.
FAU - Teissier, Marie-Pierre
AU  - Teissier MP
AD  - Department of Internal Medicine B, Endocrinology and Metabolic Diseases, 
      University Hospital of Limoges, Limoges, France.
FAU - Mathonnet, Muriel
AU  - Mathonnet M
AD  - Department of Surgery, University Hospital of Limoges, Limoges, France.
FAU - Galinat, Sophie
AU  - Galinat S
AD  - Department of Internal Medicine B, Endocrinology and Metabolic Diseases, 
      University Hospital of Limoges, Limoges, France.
FAU - Barlier, Anne
AU  - Barlier A
AD  - APHM - Conception, Laboratory of Molecular Biology, Aix-Marseille University, 
      Marseille, France.
FAU - Archambeaud, Francoise
AU  - Archambeaud F
AD  - Department of Internal Medicine B, Endocrinology and Metabolic Diseases, 
      University Hospital of Limoges, Limoges, France.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130619
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Adrenal Cortex Neoplasms/*diagnostic imaging/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Mutation, Missense
MH  - Pancreatic Neoplasms/*diagnostic imaging/genetics
MH  - Paraganglioma/*diagnostic imaging/genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
MH  - Radiography
MH  - Syndrome
PMC - PMC3895646
EDAT- 2013/06/20 06:00
MHDA- 2015/01/21 06:00
PMCR- 2015/02/01
CRDT- 2013/06/20 06:00
PHST- 2013/01/14 00:00 [received]
PHST- 2013/03/29 00:00 [revised]
PHST- 2013/05/11 00:00 [accepted]
PHST- 2013/06/20 06:00 [entrez]
PHST- 2013/06/20 06:00 [pubmed]
PHST- 2015/01/21 06:00 [medline]
PHST- 2015/02/01 00:00 [pmc-release]
AID - ejhg2013128 [pii]
AID - 10.1038/ejhg.2013.128 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2014 Feb;22(2):283-5. doi: 10.1038/ejhg.2013.128. Epub 2013 Jun 
      19.