PMID- 16787992
OWN - NLM
STAT- MEDLINE
DCOM- 20061012
LR  - 20181201
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 91
IP  - 9
DP  - 2006 Sep
TI  - Clinical characterization of familial isolated pituitary adenomas.
PG  - 3316-23
AB  - CONTEXT: Familial pituitary adenomas occur rarely in the absence of multiple 
      endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). OBJECTIVE: Our 
      objective was to characterize the clinical and genealogical features of 
      non-MEN1/CNC familial isolated pituitary adenomas (FIPA). DESIGN AND SETTING: We 
      conducted a retrospective study of clinical and genealogical characteristics of 
      FIPA cases and performed a comparison with a sporadic population at 22 university 
      hospitals in Belgium, Italy, France, and The Netherlands. RESULTS: Sixty-four 
      FIPA families including 138 affected individuals were identified [55 
      prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight 
      ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree 
      relationships predominated (75.6%) among affected individuals. A single tumor 
      phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes 
      occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases 
      (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation 
      of multigenerational families. Macroadenomas were more frequent in heterogeneous 
      vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous 
      families were larger and had more frequent suprasellar extension (P = 0.004) than 
      sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma 
      cases and within heterogeneous FIPA families; isolated familial somatotropinoma 
      cases represented 18% of FIPA cases and were younger at diagnosis than patients 
      with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 
      0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. 
      CONCLUSIONS: Homogeneous and heterogeneous expression of prolactinomas, 
      somatotropinomas, NS, and Cushing's disease can occur within families in the 
      absence of MEN1/CNC. FIPA and sporadic cases have differing clinical 
      characteristics. FIPA may represent a novel endocrine neoplasia classification 
      that requires further genetic characterization.
FAU - Daly, A F
AU  - Daly AF
AD  - Department of Endocrinology, Centre Hospitalier Universitaire de Liege, Domaine 
      Universitaire du Sart Tilman, 4000 Liege, Belgium.
FAU - Jaffrain-Rea, M-L
AU  - Jaffrain-Rea ML
FAU - Ciccarelli, A
AU  - Ciccarelli A
FAU - Valdes-Socin, H
AU  - Valdes-Socin H
FAU - Rohmer, V
AU  - Rohmer V
FAU - Tamburrano, G
AU  - Tamburrano G
FAU - Borson-Chazot, C
AU  - Borson-Chazot C
FAU - Estour, B
AU  - Estour B
FAU - Ciccarelli, E
AU  - Ciccarelli E
FAU - Brue, T
AU  - Brue T
FAU - Ferolla, P
AU  - Ferolla P
FAU - Emy, P
AU  - Emy P
FAU - Colao, A
AU  - Colao A
FAU - De Menis, E
AU  - De Menis E
FAU - Lecomte, P
AU  - Lecomte P
FAU - Penfornis, F
AU  - Penfornis F
FAU - Delemer, B
AU  - Delemer B
FAU - Bertherat, J
AU  - Bertherat J
FAU - Wemeau, J L
AU  - Wemeau JL
FAU - De Herder, W
AU  - De Herder W
FAU - Archambeaud, F
AU  - Archambeaud F
FAU - Stevenaert, A
AU  - Stevenaert A
FAU - Calender, A
AU  - Calender A
FAU - Murat, A
AU  - Murat A
FAU - Cavagnini, F
AU  - Cavagnini F
FAU - Beckers, A
AU  - Beckers A
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20060620
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit)
RN  - 0 (Gonadotropins, Pituitary)
RN  - 0 (PRKAR1A protein, human)
RN  - 0 (Pituitary Hormones, Anterior)
RN  - 9002-60-2 (Adrenocorticotropic Hormone)
RN  - EC 2.7.11.11 (Cyclic AMP-Dependent Protein Kinases)
SB  - IM
MH  - Adenoma/*genetics/metabolism/*pathology
MH  - Adrenocorticotropic Hormone/metabolism
MH  - Adult
MH  - Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
MH  - Cyclic AMP-Dependent Protein Kinases/genetics
MH  - Female
MH  - Gonadotropins, Pituitary/metabolism
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Pituitary Hormones, Anterior/metabolism
MH  - Pituitary Neoplasms/*genetics/metabolism/*pathology
MH  - Prolactinoma/genetics/pathology
MH  - Retrospective Studies
MH  - Sequence Analysis, DNA
EDAT- 2006/06/22 09:00
MHDA- 2006/10/13 09:00
CRDT- 2006/06/22 09:00
PHST- 2006/06/22 09:00 [pubmed]
PHST- 2006/10/13 09:00 [medline]
PHST- 2006/06/22 09:00 [entrez]
AID - jc.2005-2671 [pii]
AID - 10.1210/jc.2005-2671 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2006 Sep;91(9):3316-23. doi: 10.1210/jc.2005-2671. Epub 
      2006 Jun 20.