skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index

Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene

Endocrine reviews, 2013-04, Vol.34 (2), p.239-277 [Peer Reviewed Journal]

Copyright © 2013 by The Endocrine Society ;Copyright © 2013 by The Endocrine Society 2013 ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2012-1013 ;PMID: 23371967

Full text available

Citations Cited by
  • Title:
    Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene
  • Author: Beckers, Albert ; Aaltonen, Lauri A ; Daly, Adrian F ; Karhu, Auli
  • Subjects: Adolescent ; Animals ; Child ; Disease Models, Animal ; Endocrinologie, métabolisme & nutrition ; Endocrinology, metabolism & nutrition ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Growth Hormone-Secreting Pituitary Adenoma - genetics ; Growth Hormone-Secreting Pituitary Adenoma - pathology ; Human health sciences ; Humans ; Intracellular Signaling Peptides and Proteins - genetics ; Mice ; Pituitary Neoplasms - genetics ; Pituitary Neoplasms - pathology ; Reviews ; Sciences de la santé humaine ; Young Adult
  • Is Part Of: Endocrine reviews, 2013-04, Vol.34 (2), p.239-277
  • Description: Pituitary adenomas are one of the most frequent intracranial tumors and occur with a prevalence of approximately 1:1000 in the developed world. Pituitary adenomas have a serious disease burden, and their management involves neurosurgery, biological therapies, and radiotherapy. Early diagnosis of pituitary tumors while they are smaller may help increase cure rates. Few genetic predictors of pituitary adenoma development exist. Recent years have seen two separate, complimentary advances in inherited pituitary tumor research. The clinical condition of familial isolated pituitary adenomas (FIPA) has been described, which encompasses the familial occurrence of isolated pituitary adenomas outside of the setting of syndromic conditions like multiple endocrine neoplasia type 1 and Carney complex. FIPA families comprise approximately 2% of pituitary adenomas and represent a clinical entity with homogeneous or heterogeneous pituitary adenoma types occurring within the same kindred. The aryl hydrocarbon receptor interacting protein (AIP) gene has been identified as causing a pituitary adenoma predisposition of variable penetrance that accounts for 20% of FIPA families. Germline AIP mutations have been shown to associate with the occurrence of large pituitary adenomas that occur at a young age, predominantly in children/adolescents and young adults. AIP mutations are usually associated with somatotropinomas, but prolactinomas, nonfunctioning pituitary adenomas, Cushing disease, and other infrequent clinical adenoma types can also occur. Gigantism is a particular feature of AIP mutations and occurs in more than one third of affected somatotropinoma patients. Study of pituitary adenoma patients with AIP mutations has demonstrated that these cases raise clinical challenges to successful treatment. Extensive research on the biology of AIP and new advances in mouse Aip knockout models demonstrate multiple pathways by which AIP may contribute to tumorigenesis. This review assesses the current clinical and therapeutic characteristics of more than 200 FIPA families and addresses research findings among AIP mutation-bearing patients in different populations with pituitary adenomas.
  • Publisher: United States: Endocrine Society
  • Language: English
  • Identifier: ISSN: 0163-769X
    EISSN: 1945-7189
    DOI: 10.1210/er.2012-1013
    PMID: 23371967
  • Source: GFMER Free Medical Journals
    MEDLINE
    Alma/SFX Local Collection
Back to results list
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Searching Remote Databases, Please Wait