PMID- 30290472
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 1744-8417 (Electronic)
IS  - 1744-6651 (Linking)
VI  - 2
IP  - 6
DP  - 2007 Nov
TI  - Characteristics of familial isolated pituitary adenomas.
PG  - 725-733
LID - 10.1586/17446651.2.6.725 [doi]
AB  - The familial occurrence of pituitary adenomas has been recognized for many years 
      and currently accounts for approximately 5% of all cases. Molecular, genetic and 
      clinical features of familial pituitary adenomas have been well characterized in 
      multiple endocrine neoplasia type 1 (MEN-1) and Carney's complex (CNC), which 
      account for the majority of familial pituitary tumor cases. These conditions are 
      caused by MEN1 and PRKAR1A gene mutations, respectively, and the clinical and 
      pathological features of pituitary pathology in these diseases differ from those 
      of sporadic pituitary tumors. Familial acromegaly has been recognized for many 
      years and, more recently, the clinical features of this clinical phenotype, 
      referred to as isolated familial somatotropinoma, have been clarified. Over the 
      past decade, the concept of non-MEN-1/CNC familial pituitary tumors has been 
      expanded significantly to include all phenotypes, a condition known as familial 
      isolated pituitary adenomas (FIPA). In FIPA, tumors can present homogeneously 
      (same phenotype) or heterogeneously (different tumor phenotypes) within the same 
      family. Compared with sporadic pituitary adenomas, patients with FIPA have a 
      younger age at diagnosis and have larger tumors. The clinical features of FIPA 
      differ from those of MEN-1 in terms of a higher frequency of somatotropinomas and 
      a lower frequency of prolactinomas. The recent discovery of the involvement of 
      mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in 
      association with pituitary tumors has provided new information regarding 
      potential mechanisms of tumorigenesis in FIPA patients. While very infrequent in 
      sporadic pituitary tumors, approximately 15% of FIPA patients have AIP mutations, 
      rising to half of patients with familial acromegaly. In this review, we detail 
      the clinical features of FIPA and discuss tumor pathology and genetic findings in 
      this increasingly recognized clinical condition.
FAU - Daly, Adrian F
AU  - Daly AF
AD  - a University of Liege, Department of Endocrinology, Centre Hospitalier 
      Universitaire de Liege, University of Liege, Liege, Belgium.
FAU - Vanbellinghen, Jean-Francois
AU  - Vanbellinghen JF
AD  - b University of Liege, Department of Molecular Genetics, Centre Hospitalier 
      Universitaire de Liege, University of Liege, Liege, Belgium. 
      jfvanbellinghen@chu.ulg.ac.be.
FAU - Beckers, Albert
AU  - Beckers A
AD  - c Chief, Department of Endocrinology, CHU de Liege, University of Liege, Domaine 
      Universitaire du Sart Tilman, 4000 Liege, Belgium. albert.beckers@chu.ulg.ac.be.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Expert Rev Endocrinol Metab
JT  - Expert review of endocrinology & metabolism
JID - 101278293
OTO - NOTNLM
OT  - Carney's complex
OT  - adenoma
OT  - aryl hydrocarbon receptor interacting protein
OT  - familial
OT  - familial isolated pituitary adenomas
OT  - multiple endocrine neoplasia type 1
OT  - pituitary
EDAT- 2007/11/01 00:00
MHDA- 2007/11/01 00:01
CRDT- 2018/10/07 06:00
PHST- 2018/10/07 06:00 [entrez]
PHST- 2007/11/01 00:00 [pubmed]
PHST- 2007/11/01 00:01 [medline]
AID - 10.1586/17446651.2.6.725 [doi]
PST - ppublish
SO  - Expert Rev Endocrinol Metab. 2007 Nov;2(6):725-733. doi: 
      10.1586/17446651.2.6.725.