PMID- 17914118
OWN - NLM
STAT- MEDLINE
DCOM- 20080115
LR  - 20081121
IS  - 1351-0088 (Print)
IS  - 1351-0088 (Linking)
VI  - 14
IP  - 3
DP  - 2007 Sep
TI  - No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in 
      sporadic endocrine neoplasia.
PG  - 901-6
AB  - Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) 
      gene were recently observed in patients with pituitary adenoma predisposition 
      (PAP). Though AIP mutation-positive individuals with prolactin-, mixed growth 
      hormone/prolactin-, and ACTH-producing pituitary adenomas as well as 
      non-secreting pituitary adenomas have been reported, most mutation-positive 
      patients have had growth hormone-producing adenomas diagnosed at relatively young 
      age. Pituitary adenomas are also component tumors of some familial endocrine 
      neoplasia syndromes such as multiple endocrine neoplasia type 1 (MEN1) and Carney 
      complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic 
      pituitary adenomas, but more often in other lesions contributing to these two 
      syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied 
      in endocrine tumors other than pituitary adenomas. Here, we have analyzed 32 
      pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP 
      mutations by direct sequencing. No somatic mutations were identified. However, 
      two out of nine patients with prolactin-producing adenoma were shown to harbor a 
      Finnish founder mutation (Q14X) with a complete loss of the wild-type allele in 
      the tumors. These results are in agreement with previous studies in that 
      prolactin-producing adenomas are component tumors in PAP. The data also support 
      the previous finding that somatic AIP mutations are not common in pituitary 
      adenomas and suggest that such mutations are rare in other endocrine tumors as 
      well.
FAU - Raitila, A
AU  - Raitila A
AD  - Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, PO 
      Box 63, Haartmaninkatu 8, FIN-00014 University of Helsinki, Finland.
FAU - Georgitsi, M
AU  - Georgitsi M
FAU - Karhu, A
AU  - Karhu A
FAU - Tuppurainen, K
AU  - Tuppurainen K
FAU - Makinen, M J
AU  - Makinen MJ
FAU - Birkenkamp-Demtroder, K
AU  - Birkenkamp-Demtroder K
FAU - Salmenkivi, K
AU  - Salmenkivi K
FAU - Orntoft, T F
AU  - Orntoft TF
FAU - Arola, J
AU  - Arola J
FAU - Launonen, V
AU  - Launonen V
FAU - Vahteristo, P
AU  - Vahteristo P
FAU - Aaltonen, L A
AU  - Aaltonen LA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Proteins)
RN  - 0 (aryl hydrocarbon receptor-interacting protein)
SB  - IM
MH  - Adenoma/*genetics
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Carcinoma/*genetics
MH  - DNA Mutational Analysis
MH  - Endocrine Gland Neoplasms/*genetics
MH  - Female
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Proteins/*genetics
EDAT- 2007/10/05 09:00
MHDA- 2008/01/16 09:00
CRDT- 2007/10/05 09:00
PHST- 2007/10/05 09:00 [pubmed]
PHST- 2008/01/16 09:00 [medline]
PHST- 2007/10/05 09:00 [entrez]
AID - 14/3/901 [pii]
AID - 10.1677/ERC-07-0025 [doi]
PST - ppublish
SO  - Endocr Relat Cancer. 2007 Sep;14(3):901-6. doi: 10.1677/ERC-07-0025.