Clinical characterization of familial isolated pituitary adenomas.

نویسندگان

  • A F Daly
  • 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
چکیده

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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عنوان ژورنال:
  • The Journal of clinical endocrinology and metabolism

دوره 91 9  شماره 

صفحات  -

تاریخ انتشار 2006