Clinical characterization of familial isolated pituitary adenomas - PubMed (original) (raw)

Multicenter Study

. 2006 Sep;91(9):3316-23.

doi: 10.1210/jc.2005-2671. Epub 2006 Jun 20.

M-L Jaffrain-Rea, A Ciccarelli, H Valdes-Socin, V Rohmer, G Tamburrano, C Borson-Chazot, B Estour, E Ciccarelli, T Brue, P Ferolla, P Emy, A Colao, E De Menis, P Lecomte, F Penfornis, B Delemer, J Bertherat, J L Wémeau, W De Herder, F Archambeaud, A Stevenaert, A Calender, A Murat, F Cavagnini, A Beckers

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Free article

Multicenter Study

Clinical characterization of familial isolated pituitary adenomas

A F Daly et al. J Clin Endocrinol Metab. 2006 Sep.

Free article

Abstract

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.

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