Article (Scientific journals)
Clinical characterization of familial isolated pituitary adenomas.
Daly, Adrian; Jaffrain-Rea, Marie-Lise; Ciccarelli, A. et al.
2006In Journal of Clinical Endocrinology and Metabolism, 91 (9), p. 3316-23
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Keywords :
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
Abstract :
[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.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Daly, Adrian  ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Jaffrain-Rea, Marie-Lise
Ciccarelli, A.
Valdes Socin, Hernan Gonzalo  ;  Université de Liège - ULiège > 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 ;  Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
More authors (16 more) Less
Language :
English
Title :
Clinical characterization of familial isolated pituitary adenomas.
Publication date :
September 2006
Journal title :
Journal of Clinical Endocrinology and Metabolism
ISSN :
0021-972X
eISSN :
1945-7197
Publisher :
Endocrine Society, Chevy Chase, United States - Maryland
Volume :
91
Issue :
9
Pages :
3316-23
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 March 2010

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