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Pituitary tumours: the gene hunting season is now open!
3/1/11

Albert Beckers began to take an interest in pituitary adenoma in the 1980s. He has explored around 2,500 of them. Towards the end of the 1990s he became more particularly interested in familial forms. ‘At that time we knew that they could appear in a sporadic manner but that they could also be hereditary,’ remembers the endocrinologist. ‘Pituitary adenomas develop notably in patients suffering from type 1 multiple endocrine neoplasia (MEN1), an hereditary syndromic pathology which consists of an association of various endocrinal affections,’ he continues. Another form of familial pituitary adenoma known at the time appeared in people suffering from the rare Carney complex. These patients could effectively have a somatotropic adenoma or a prolactinoma at the same time as other lesions (heart myxoma, skin or testicular lesions, etc.).

FIPA EN

‘Scientists had also brought to light the appearance of acromegalies in a third familial syndrome but it was still poorly documented,’ points out Albert Beckers. ‘Whilst their evolution is often benign, the pituitary adenoma are characterised by a large clinical and genetic diversity which demand specific diagnostic and therapeutic methods.’ To better treat patients who are affected it is thus important to study these diseases, their different forms and the factors linked to their occurrence.

The FIPA, a new hereditary form

Recently the clinical and genetic characterisation of familial forms, which represent around 5% of pituitary adenoma, has been enriched by the description of a new entity: the FIPA, for ‘familial isolated pituitary adenomas.’ In effect Albert Beckers in 2000 described for the very first time these other types of familial pituitary adenoma which are linked neither to type 1 multiple endocrine neoplasia nor to the Carney complex (2). ‘Between 2000 and 2004 I worked with my colleagues to detect and describe familial isolated pituitary adenomas,’ points out Albert Beckers, and in 2006 he published, in The Journal of Clinical Endocrinology and Metabolism (JCEM), an article on the clinical characterization of FIPA on the basis of the study of 64 families and 138 patients affected by pituitary adenoma but not MEN1 syndrome of Carney complex (3).

(2) Valdes-Socin H, Poncin J, Stevens V, Stevenaert A & Beckers A. Adenomes hypophysaires familiaux isoles non lies avec la mutation somatique NEM-1. Suivi de 27 patients. Annales d’Endocrinologie 2000 61 301.
(3) 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 and A. Beckers. Clinical Characterization of Familial Isolated Pituitary Adenomas. The Journal of Clinical Endocrinology & Metabolism Vol. 91, No. 9 3316-3323.

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