PMID- 23321498
OWN - NLM
STAT- MEDLINE
DCOM- 20130506
LR  - 20161018
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 168
IP  - 4
DP  - 2013 Apr
TI  - Genetic analysis in young patients with sporadic pituitary macroadenomas: besides 
      AIP don't forget MEN1 genetic analysis.
PG  - 533-41
LID - 10.1530/EJE-12-0763 [doi]
AB  - CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein 
      gene (AIP) have been identified in young patients (age </=30 years old) with 
      sporadic pituitary macroadenomas. Otherwise, there are few data concerning the 
      prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a 
      population. OBJECTIVE: We assessed the prevalence of both AIP and MEN1 genetic 
      abnormalities (mutations and large gene deletions) in young patients (age </=30 
      years old) diagnosed with sporadic and isolated macroadenoma, without 
      hypercalcemia and/or MEN1-associated lesions. DESIGN: The entire coding sequences 
      of AIP and MEN1 were screened for mutations. In cases of negative sequencing 
      screening, multiplex ligation-dependent probe amplification was performed for the 
      detection of large genetic deletions. PATIENTS AND SETTINGS: One hundred and 
      seventy-four patients from endocrinology departments of 15 French University 
      Hospital Centers were eligible for this study. RESULTS: Twenty-one out of 174 
      (12%) patients had AIP (n=15, 8.6%) or MEN1 (n=6, 3.4%) mutations. In pediatric 
      patients (age </=18 years old), AIP/MEN1 mutation frequency reached nearly 22% 
      (n=10/46). AIPmut and MEN1mut were identified in 8/79 (10.1%) and 1/79 (1.2%) 
      somatotropinoma patients respectively; they each accounted for 4/74 (5.4%) 
      prolactinoma (PRL) patients with mutations. Half of those patients (n=3/6) with 
      gigantism displayed mutations in AIP. Interestingly, 4/12 (33%) patients with 
      non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the 
      eight corticotroph adenomas or the single thyrotropinoma case had mutations. No 
      large gene deletions were observed in sequencing-negative patients. CONCLUSION: 
      Mutations in MEN1 can be of significance in young patients with sporadic isolated 
      pituitary macroadenomas, particularly PRL, and together with AIP, we suggest 
      genetic analysis of MEN1 in such a population.
FAU - Cuny, Thomas
AU  - Cuny T
AD  - Department of Endocrinology, University Hospital of Nancy-Brabois, 54500 
      Vandoeuvre-les-Nancy, France.
FAU - Pertuit, Morgane
AU  - Pertuit M
FAU - Sahnoun-Fathallah, Mona
AU  - Sahnoun-Fathallah M
FAU - Daly, Adrian
AU  - Daly A
FAU - Occhi, Gianluca
AU  - Occhi G
FAU - Odou, Marie Francoise
AU  - Odou MF
FAU - Tabarin, Antoine
AU  - Tabarin A
FAU - Nunes, Marie Laure
AU  - Nunes ML
FAU - Delemer, Brigitte
AU  - Delemer B
FAU - Rohmer, Vincent
AU  - Rohmer V
FAU - Desailloud, Rachel
AU  - Desailloud R
FAU - Kerlan, Veronique
AU  - Kerlan V
FAU - Chabre, Olivier
AU  - Chabre O
FAU - Sadoul, Jean-Louis
AU  - Sadoul JL
FAU - Cogne, Muriel
AU  - Cogne M
FAU - Caron, Philippe
AU  - Caron P
FAU - Cortet-Rudelli, Christine
AU  - Cortet-Rudelli C
FAU - Lienhardt, Anne
AU  - Lienhardt A
FAU - Raingeard, Isabelle
AU  - Raingeard I
FAU - Guedj, Anne-Marie
AU  - Guedj AM
FAU - Brue, Thierry
AU  - Brue T
FAU - Beckers, Albert
AU  - Beckers A
FAU - Weryha, Georges
AU  - Weryha G
FAU - Enjalbert, Alain
AU  - Enjalbert A
FAU - Barlier, Anne
AU  - Barlier A
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20130315
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (aryl hydrocarbon receptor-interacting protein)
SB  - IM
MH  - Adenoma/diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Cohort Studies
MH  - Female
MH  - Genetic Linkage/*genetics
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins/*genetics
MH  - Male
MH  - Mutation/genetics
MH  - Pituitary Neoplasms/diagnosis/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Young Adult
EDAT- 2013/01/17 06:00
MHDA- 2013/05/07 06:00
CRDT- 2013/01/17 06:00
PHST- 2013/01/17 06:00 [entrez]
PHST- 2013/01/17 06:00 [pubmed]
PHST- 2013/05/07 06:00 [medline]
AID - EJE-12-0763 [pii]
AID - 10.1530/EJE-12-0763 [doi]
PST - epublish
SO  - Eur J Endocrinol. 2013 Mar 15;168(4):533-41. doi: 10.1530/EJE-12-0763. Print 2013 
      Apr.