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See detailClinical characterization of familial isolated pituitary adenomas.
Daly, Adrian ULg; Jaffrain-Rea, M.-L.; Ciccarelli, A. et al

in Journal of Clinical Endocrinology and Metabolism (2006), 91(9), 3316-23

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 ... [more ▼]

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. [less ▲]

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See detailPituitary disease in MEN type 1 (MEN1): Data from the France-Belgium MEN1 multicenter study
Vergès, B.; Boureille, F.; Goudet, P. et al

in Journal of Clinical Endocrinology and Metabolism (2002), 87(2), 457-465

To date, data on pituitary adenomas in MEN type 1 (MEN1) still have to be evaluated. We analyzed the data of a large series of 324 MEN1 patients from a French and Belgian multicenter study. Data on ... [more ▼]

To date, data on pituitary adenomas in MEN type 1 (MEN1) still have to be evaluated. We analyzed the data of a large series of 324 MEN1 patients from a French and Belgian multicenter study. Data on pituitary disease were compared with those from 110 non-MEN1 patients with pituitary adenomas, matched for age, year of diagnosis, and follow-up period. Genetic analysis of the MEN1 gene was performed in 197 of the MEN1 patients. In our MEN1 series, pituitary disease occurred in 136 of 324 (42%), less frequently than hyperparathyroidism (95%, P < 0.001) and endocrine enteropancreatic tumors (54%, P < 0.01). Mean age of onset of pituitary tumors was 38.0 +/- 15.3 yr (range, 12-83 yr). Pituitary disease was associated with hyperparathyroidism in 90%. of cases, with enteropancreatic tumors in 47%, with adrenal tumors in 16%, and with thoracic neuroendocrine tumors in 4%. Pituitary disease was the initial lesion of MEN1 in 17% of all MEN1 patients. MEN1 pituitary adenomas were significantly more frequent in women than in men (50% vs. 31%,P < 0.001). Among the 136 pituitary adenomas, there were 85 prolactinomas and 12 GH-secreting, 6 ACTH-secreting, 13 cosecreting, and 20 nonsecreting tumors. Eighty-five percent of MEN1-related pituitary lesions were macroadenomas (vs. 42% in non-MEN1 patients, P < 0.001), including 32% of invasive cases. Among secreting adenomas, hormonal hypersecretion was normalized, after treatment, in only 42% (vs. 90% in non-MEN1 patients, P < 0.001), with a median follow-up of 11.4 yr. No correlation was found between the type of MEN1 germ-line mutation and the presence or absence of pituitary adenoma. Our study, based on a large group of MEN1 patients, shows that pituitary adenomas occur in 42% of the cases and are characterized by a larger size and a more aggressive presentation than without MEN1. [less ▲]

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See detailHyperparathyroidism in multiple endocrine neoplasia type 1 : Surgical trends and results : a 256-patient series from the genem study group
Goudet, P.; Cougard, P.; Verges, B. et al

in World Journal of Surgery (2001), 25(7), 886-890

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See detailLes insulinomes dans les néoplasies endocriniennes multiples de type 1 (NEM1) : A propos d'une série de 44 cas du Groupe d'Etude des Néoplasies Endocriniennes Multiples (GENEM)
Cougard, P.; Goudet, P.; Peix, J. L. et al

in Annales de Chirurgie (2000), 125(2), 118-123

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See detailReport of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998.
Gaudray, P.; Carle, G. F.; Gerhard, D. S. et al

in CytoGenetics & Cell Genetics (1999), 86(3-4), 167-86

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See detailClinical and genetic aspects of MEN1 and related diseases : a 3 year experience based on the French-Belgian Study group on MEN1
Calender, A.; Murat, A.; Carpentier, B. et al

in 6th International Workshop on Multiple Endocrine Neoplasia and Von Hippel-Lindau Disease (1997)

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See detailDepistage des neoplasies endocriniennes multiples de type 1 (NEM 1). Reflexion du Groupe d'Etude des Neoplasies Endocriniennes Multiples de type 1 (GENEM 1).
Cougard, P.; Calender, A.; Carnaille, B. et al

in Annales de Chirurgie (1995), 49(6), 500-506

The "Groupe d'Etude des Neoplasies Endocriniennes Multiples de type 1 (GENEM 1)" is a French group involved in a comprehensive multicentre study of Multiple Endocrine Neoplasia type 1 syndrome (NEM 1 ... [more ▼]

The "Groupe d'Etude des Neoplasies Endocriniennes Multiples de type 1 (GENEM 1)" is a French group involved in a comprehensive multicentre study of Multiple Endocrine Neoplasia type 1 syndrome (NEM 1). The objectives of this group are to define diagnostic and therapeutic protocols and to carry out genetic research on NEM1. The first aim of physicians is to recognize the syndrome and to determine the appropriate screening especially into two circumstances: 1 degree In case of isolated and sporadic glandular disease -i-e-parathyroid glands, endocrine pancreas, antehypophysis, adrenal glands and neuroendocrine tumors? 2 degrees In case of very high probability of NEM 1 syndrome? This paper answers these two questions, based on the analysis of the first 150 cases collected by the GENEM 1. [less ▲]

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