PMID- 25248598
OWN - NLM
STAT- MEDLINE
DCOM- 20160728
LR  - 20161125
IS  - 0072-9752 (Print)
IS  - 0072-9752 (Linking)
VI  - 124
DP  - 2014
TI  - Familial pituitary tumors.
PG  - 339-60
LID - B978-0-444-59602-4.00023-X [pii]
LID - 10.1016/B978-0-444-59602-4.00023-X [doi]
AB  - Pituitary adenomas are benign intracranial neoplasms that present a major 
      clinical concern due to hormone overproduction and/or tumor mass effects. The 
      majority of pituitary adenomas occur sporadically; however, familial cases are 
      increasingly being recognized, such as multiple endocrine neoplasia type 1 
      (MEN1), Carney complex (CNC), and familial isolated pituitary adenoma (FIPA). 
      Familial pituitary tumors appear to differ from their sporadic counterparts both 
      in their genetic basis and in clinical characteristics. Evidence suggests that, 
      especially in MEN1 and FIPA, tumors are more aggressive and affect patients at a 
      younger age, therefore justifying the importance of early diagnosis, while in 
      Carney complex pituitary hyperplasia is common. The genetic alterations 
      responsible for the formation of familial pituitary syndromes include the MEN1 
      gene, responsible for about 80% of MEN1 cases, the regulatory subunit of the 
      protein kinase A, PRKAR1A, responsible for about 70% of Carney complex cases, and 
      AIP, the gene coding the aryl hydrocarbon receptor interacting protein, 
      responsible for about 20% of FIPA cases. Rarely other genes have also been found 
      responsible for familial pituitary adenoma cases. McCune-Albright syndrome (MAS) 
      also has a genetic origin due to mosaic mutations in the G protein-coupled alpha 
      subunit coded by the GNAS1 gene. In this chapter, we summarize the genetic and 
      clinical characteristics of these familial pituitary syndromes and MAS.
CI  - (c) 2014 Elsevier B.V. All rights reserved.
FAU - Alband, Neda
AU  - Alband N
AD  - Department of Endocrinology, Barts and the London School of Medicine, Queen Mary 
      University of London, London, UK.
FAU - Korbonits, Marta
AU  - Korbonits M
AD  - Department of Endocrinology, Barts and the London School of Medicine, Queen Mary 
      University of London, London, UK. Electronic address: m.korbonits@qmul.ac.uk.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Handb Clin Neurol
JT  - Handbook of clinical neurology
JID - 0166161
RN  - 0 (Chromogranins)
RN  - EC 3.6.1.- (GNAS protein, human)
RN  - EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
RN  - Pituitary Adenoma, Familial Isolated
SB  - IM
MH  - Adenoma/diagnosis/genetics/therapy
MH  - Animals
MH  - Carney Complex/*diagnosis/*genetics/therapy
MH  - Chromogranins
MH  - GTP-Binding Protein alpha Subunits, Gs/chemistry/genetics
MH  - Growth Hormone-Secreting Pituitary Adenoma/*diagnosis/*genetics/therapy
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/therapy
MH  - Pituitary Neoplasms/diagnosis/genetics/therapy
MH  - Protein Structure, Secondary
OTO - NOTNLM
OT  - Carney complex (CNC)
OT  - McCune-Albright syndrome (MAS)
OT  - familial isolated pituitary adenomas (FIPA)
OT  - multiple endocrine neoplasia type 1 (MEN1)
EDAT- 2014/09/25 06:00
MHDA- 2016/07/29 06:00
CRDT- 2014/09/25 06:00
PHST- 2014/09/25 06:00 [entrez]
PHST- 2014/09/25 06:00 [pubmed]
PHST- 2016/07/29 06:00 [medline]
AID - B978-0-444-59602-4.00023-X [pii]
AID - 10.1016/B978-0-444-59602-4.00023-X [doi]
PST - ppublish
SO  - Handb Clin Neurol. 2014;124:339-60. doi: 10.1016/B978-0-444-59602-4.00023-X.