PMID- 17893250
OWN - NLM
STAT- MEDLINE
DCOM- 20071218
LR  - 20220317
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 157
IP  - 4
DP  - 2007 Oct
TI  - The clinical, pathological, and genetic features of familial isolated pituitary 
      adenomas.
PG  - 371-82
AB  - Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia 
      type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the 
      genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is 
      also a well-described clinical syndrome related only to patients with 
      acrogigantism. Pituitary adenomas of all types--not limited to IFS--can occur in 
      a familial setting in the absence of MEN1 and CNC; this phenotype is termed 
      familial isolated pituitary adenomas (FIPA). Over the past 7 years, we have 
      described over 90 FIPA kindreds. In FIPA, both homogeneous and heterogeneous 
      pituitary adenoma phenotypes can occur within families; virtually all FIPA 
      kindreds contain at least one prolactinoma or somatotropinoma. FIPA differs from 
      MEN1 in terms of a lower proportion of prolactinomas and more frequent 
      somatotropinomas in the FIPA cohort. Patients with FIPA are significantly younger 
      at diagnosis and have significantly larger pituitary adenomas than matched 
      sporadic pituitary adenoma counterparts. A minority of FIPA families overall 
      (15%) exhibit mutations in the aryl hydrocarbon receptor-interacting protein 
      (AIP) gene; AIP mutations are present in only half of IFS kindreds occurring as 
      part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have 
      a penetrance of over 50%. AIP mutations are extremely rare in patients with 
      sporadic pituitary adenomas. This review deals with pituitary adenomas that occur 
      in a familial setting, describes in detail the clinical, pathological, and 
      genetic features of FIPA, and addresses aspects of the clinical approach to FIPA 
      families with and without AIP mutations.
FAU - Beckers, Albert
AU  - Beckers A
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Domaine 
      Universitaire du Sart Tilman, University of Liege, 4000 Liege, Belgium. 
      albert.beckers@chu.ulg.ac.be
FAU - Daly, Adrian F
AU  - Daly AF
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Adenoma/*genetics/*pathology
MH  - Family
MH  - Growth Hormone-Secreting Pituitary Adenoma/epidemiology/genetics/pathology
MH  - Humans
MH  - Inheritance Patterns
MH  - Multiple Endocrine Neoplasia Type 1/genetics/pathology
MH  - Pituitary Neoplasms/epidemiology/*genetics/*pathology
MH  - Syndrome
RF  - 69
EDAT- 2007/09/26 09:00
MHDA- 2007/12/19 09:00
CRDT- 2007/09/26 09:00
PHST- 2007/09/26 09:00 [pubmed]
PHST- 2007/12/19 09:00 [medline]
PHST- 2007/09/26 09:00 [entrez]
AID - 157/4/371 [pii]
AID - 10.1530/EJE-07-0348 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2007 Oct;157(4):371-82. doi: 10.1530/EJE-07-0348.