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Submitted on December 9, 2005
Accepted on June 8, 2006
Department of Endocrinology, CHU de Liège, 4000 Liège, Belgium.; Department of Experimental Medicine, University of L'Aquila, and Neuromed, IRCCS, Pozzili, Italy.; Department of Endocrinology, Centre Hospitalier Universitaire de Angers, 49033 Angers, France.; Department of Clinical Science, Endocrine Section, University of Rome La Sapienza, Rome 00100, Italy.; Department of Endocrinology, Centre Hospitalier Universitaire de Lyon, 69495 Lyon, France.; Department of Endocrinology, Centre Hospitalier Universitaire de Saint Etienne, Saint Etienne, France.; Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy.; Centre National de la Recherche Scientifique, Université de la Méditerranée, 13926 Marseille, France.; Department of Internal Medicine and Endocrine Sciences, University of Perugia, 06100 Perugia, Italy.; Department of Endocrinology, Centre Hospitalier Regional, Orléans, France.; Department of Molecular & Clinical Endocrinology and Oncology, University "Federico II", Naples, Italy.; Department of Internal Medicine, General Hospital, Treviso, Italy.; Unité d'Endocrinologie, Diabétologie et Maladies Métaboliques CHRU Tours, 37044 Tours Cedex 9, France.; Department of Endocrinology, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Department of Endocrinology, Centre Hospitalier Universitaire de Reims, Reims, France.; Service d'Endocrinologie, Hôpital Cochin et INSERM U567, Paris, France.; Clinique Endocrinologique Marc Linquette, Centre Hospitalier Universitaire de Lille, Lille, France.; Section of Endocrinology, Department of Internal Medicine, Erasmus MC, 3015 GD Rotterdam, The Netherlands.; Department of Internal Medicine (B) and Endocrinology, Hôpital du Cluzeau, 87042 Limoges, France.; Department of Neurosurgery, CHU de Liège, 4000 Liège, Belgium.; Department of Human Genetics, Hôpital Edouard Heriot, Centre Hospitalier de Lyon, 69437 Lyon, France.; Department of Endocrinology, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.; Department of Endocrinology, Ospedale San Luca, Istituto Auxologico Italian, IRCCS, Milan, Italy
* To whom correspondence should be addressed. E-mail: albert.beckers{at}chu.ulg.ac.be.
Context: Familial pituitary adenomas occurring rarely in the absence of multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC).
Objective: To characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA).
Design: Retrospective study of clinical and genealogic characteristics of FIPA cases; comparison with a sporadic population.
Setting: 22 University Hospitals in Belgium, Italy, France, and The Netherlands.
Results: 64 FIPA families including 138 affected individuals were identified (55 prolactinomas, 47 somatotropinomas, 28 non-secreting adenomas (NS), 8 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 1st- vs. the 2nd-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; IFS 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 which requires further genetic characterization.
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