Reference : Clinical characterization of familial isolated pituitary adenomas.
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
http://hdl.handle.net/2268/20392
Clinical characterization of familial isolated pituitary adenomas.
English
Daly, Adrian [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
Jaffrain-Rea, M.-L. [> > > >]
Ciccarelli, A. [> > > >]
Valdes Socin, Hernan Gonzalo [Université de Liège - ULg > > Endocrinologie clinique >]
Rohmer, V. [> > > >]
Tamburrano, G. [> > > >]
Borson-Chazot, C. [> > > >]
Estour, B. [> > > >]
Ciccarelli, E. [> > > >]
Brue, T. [> > > >]
Ferolla, P. [> > > >]
Emy, P. [> > > >]
Colao, A. [> > > >]
De Menis, E. [> > > >]
Lecomte, P. [> >]
Penfornis, F. [> > > >]
Delemer, B. [> > > >]
Bertherat, J. [> > > >]
Wemeau, J. L. [> > > >]
De Herder, W. [> > > >]
Archambeaud, F. [> > > >]
Stevenaert, Achille [Centre Hospitalier Universitaire de Liège - CHU > > Neurochirurgie >]
Calender, A. [> > > >]
Murat, A. [> > > >]
Cavagnini, F. [> > > >]
Beckers, Albert mailto [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie >]
Sep-2006
Journal of Clinical Endocrinology and Metabolism
Endocrine Society
91
9
3316-23
Yes (verified by ORBi)
International
0021-972X
Chevy Chase
MD
[en] Adenoma/genetics/pathology/secretion ; Adrenocorticotropic Hormone/secretion ; Adult ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit ; Cyclic AMP-Dependent Protein Kinases/genetics ; Female ; Gonadotropins, Pituitary/metabolism ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Pedigree ; Pituitary Hormones, Anterior/metabolism ; Pituitary Neoplasms/genetics/pathology/secretion ; Prolactinoma/genetics/pathology ; Retrospective Studies ; Sequence Analysis, DNA
[en] 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.
Researchers ; Professionals
http://hdl.handle.net/2268/20392
10.1210/jc.2005-2671

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