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Daly, A.F.; Tichomirowa, M.A.; Petrossians, P.; Heliövaara, E.; Jaffrain-Rea, M.-L.; Barlier, A.; Naves, L.A.; Ebeling, T.; Karhu, A.; Raappana, A.; Cazabat, L.; De Menis, E.; Montañana, C.F.; Raverot, G.; Weil, R.J.; Sane, T.; Maiter, D.; Neggers, S. (...) Beckers, A. "Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study" (2010) Journal of Clinical Endocrinology and Metabolism. 95(11):E373-E383
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Abstract:

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively. Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas. Design: This study was an international, multicenter, retrospective case collection/database analysis. Setting: The study was conducted at 36 tertiary referral endocrine and clinical genetics departments. Patients: Patients included 96 patients with germline AIPmut and pituitary adenomas and 232 matched AIPmut-negative acromegaly controls. Results: The AIPmut population was predominantly young and male (63.5%); first symptoms occurred as children/adolescents in 50%. At diagnosis, most tumors were macroadenomas (93.3%); extension and invasion was common. Somatotropinomas comprised 78.1% of the cohort; there were also prolactinomas (n = 13), nonsecreting adenomas (n = 7), and a TSH-secreting adenoma. AIPmut somatotropinomas were larger (P = 0.00026), with higher GH levels (P = 0.00068), more frequent extension (P = 0.018) and prolactin cosecretion (P = 0.00023), and occurred 2 decades before controls (P < 0.000001). Gigantism was more common in the AIPmut group (P < 0.000001). AIPmut somatotropinoma patients underwent more surgical interventions (P = 0.00069) and had lower decreases in GH (P = 0.00037) and IGF-I (P = 0.028) and less tumor shrinkage with somatostatin analogs (P < 0.00001) vs. controls. AIPmut prolactinomas occurred generally in young males and frequently required surgery or radiotherapy. Conclusions: AIPmut pituitary adenomas have clinical features that may negatively impact treatment efficacy. Predisposition for aggressive disease in young patients, often in a familial setting, suggests that earlier diagnosis of AIPmut pituitary adenomas may have clinical utility. Copyright © 2010 by The Endocrine Society.

Registro:

Documento: Artículo
Título:Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study
Autor:Daly, A.F.; Tichomirowa, M.A.; Petrossians, P.; Heliövaara, E.; Jaffrain-Rea, M.-L.; Barlier, A.; Naves, L.A.; Ebeling, T.; Karhu, A.; Raappana, A.; Cazabat, L.; De Menis, E.; Montañana, C.F.; Raverot, G.; Weil, R.J.; Sane, T.; Maiter, D.; Neggers, S.; Yaneva, M.; Tabarin, A.; Verrua, E.; Eloranta, E.; Murat, A.; Vierimaa, O.; Salmela, P.I.; Emy, P.; Toledo, R.A.; Sabaté, M.I.; Villa, C.; Popelier, M.; Salvatori, R.; Jennings, J.; Longás, Á.F.; Aizpún, J.I.L.; Georgitsi, M.; Paschke, R.; Ronchi, C.; Valimaki, M.; Saloranta, C.; De Herder, W.; Cozzi, R.; Guitelman, M.; Magri, F.; Lagonigro, M.S.; Halaby, G.; Corman, V.; Hagelstein, M.-T.; Vanbellinghen, J.-F.; Barra, G.B.; Gimenez-Roqueplo, A.-P.; Cameron, F.J.; Borson-Chazot, F.; Holdaway, I.; Toledo, S.P.A.; Stalla, G.K.; Spada, A.; Zacharieva, S.; Bertherat, J.; Brue, T.; Bours, V.; Chanson, P.; Aaltonen, L.A.; Beckers, A.
Filiación:Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, 4000 Liège, Belgium
Department of Molecular Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, 4000 Liège, Belgium
Molecular and Cancer Biology Program, Department of Medical Genetics, University of Helsinki, Helsinki, FI-00014, Finland
Department of Experimental Medicine, University of l'Aquila, Istituto di Ricovero e Cura a Carattere Scientifico, 86077 Pozzili, Italy
Laboratory of Biochemistry and Molecular Biology, Centre Hospitalo Universitaire Conception, Université de la Méditerranée, 13385 Marseille, France
Division of Endocrinology, University of Brasilia, 70910 Brasilia, Brazil
Department of Medicine, University of Oulu, Oulu University Hospital, FIN-90029, Finland
Department of Otorhinolaryngology, University of Oulu, Oulu University Hospital, FIN-90029, Finland
Department of Clinical Genetics, University of Oulu, Oulu University Hospital, FIN-90029, Finland
Institut National de la Santé et de la Recherche Médicale, Département d'Endocrinologie Métabolisme, et Cancer, Université Paris V, 75475 Paris, France
Ospedale Generale Montebelluna, 1 31044 Montebelluna, Italy
Department of Endocrinology, Hospital Universitario de la Ribera, 46600 Alzira, Valencia, Spain
Department of Endocrinology, Centre Hospitalier Universitaire de Lyon, 69495 Lyon, France
Brain Tumor Institute and Department of Neurosurgery, Cleveland Clinic, Cleveland, OH 44195, United States
Department of Endocrinology, Helsinki University Central Hospital, 00029 Helsinki, Finland
Department of Endocrinology, St. Luc University Hospital, Université Catholique de Louvain, B-1200 Brussels, Belgium
Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Centre, 3015 GD Rotterdam, Netherlands
Clinical Center of Endocrinology and Gerontology, Medical University, 1431, Sofia, Bulgaria
Department of Endocrinology, Hôpital Haut Lévêque, Centre Hospitalier Universitaire de Bordeaux, 33600 Pessac, France
Unit of Endocrinology, Fondazione Instituto di Ricovero e Cura a Carattere Scientifico, Ospedaliera Maggiore Policlinico Mangiagalli Regina Elena, 20122 Milan, Italy
Department of Endocrinology, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France
Department of Endocrinology, Centre Hospitalier Regional, 45032 Orléans, France
Unidade de Endocrinologia Genetica Laboratorio de Investigacao Medica-25, Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-900 SP, Brazil
Austral University Hospital, 1629 Buenos Aires, Argentina
Department of Neuropathology and Neurosurgery, Institut National de la Santé et de la Recherche Médicale Unité 984, Université Paris Descartes, 75014 Paris, France
Unit of Internal Medicine and Endocrinology, Istituto Superiore Prevenzione e Sicurezza Sul Lavoro Laboratory for Endocrine Disruptors, University of Pavia, 27100 Pavia, Italy
Department of Endocrinology, University of Pavia, 27100 Pavia, Italy
Neuroscience Institute, Faculty of Medicine, University of Buenos Aires, 1428 Buenos Aires, Argentina
Department of Endocrinology, Centre Hospitalier, Service Médecine A, 78514 Rambouillet-Cedex, France
Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States
Department of Endocrinology and Diabetes, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia
Department of Pediatrics, Hospital Infantil Miguel Servet, 50009 Zaragoza, Spain
Medical Department III, Leipzig University, 04103 Leipzig, Germany
Division of Endocrinology, Ospedale Niguarda, 20162 Milan, Italy
Department of Endocrinology and Metabolism, Hôtel Dieu Hospital, 16-6830 Beirut, Lebanon
Department of Endocrinology, Centre Hospitalier Regional de la Citadelle, 4000 Liège, Belgium
Laboratorio Sabin, 8000 Brasilia, Brazil
Department of Genetics, Hôpital Europé en Georges Pompidou, Université Paris Descartes, Paris, France
Department of Endocrinology, Greenlane Clinical Centre, 1051 Auckland, New Zealand
Department of Endocrinology, Max Planck Institute of Psychiatry, 80804 Munich, Germany
Service d'Endocrinologie, Diabete, et Maladies Metaboliques, Centre de Reference des Maladies Rares d'Origine Hypophysaires, Hôpital de la Timone, 13385 Marseille, France
Department of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre and Université Paris-Sud 11, Le Kremlin-Bicêtre F-94276, France
Department of Clinical Genetics, University of Oulu, Oulu University Hospital, FIN-90014 Oys, Finland
Faculté de Médecine, Hôpital Cochin, Hôpitaux de Paris, 75475 Paris, France
Palabras clave:growth hormone; liothyronine; octreotide; somatomedin C; somatostatin derivative; thyrotropin; thyroxine; adult; aip gene; article; cancer invasion; clinical assessment; controlled study; dyspnea; female; gene mutation; genetic predisposition; genotype phenotype correlation; germ line; gigantism; growth hormone blood level; growth hormone secreting adenoma; human; human genome; hypophysis adenoma; hypopituitarism; liothyronine blood level; major clinical study; male; onset age; priority journal; prolactin release; prolactinoma; repeated drug dose; retrospective study; tachycardia; thyrotropin blood level; thyrotropin secreting adenoma; thyroxine blood level; treatment response; tumor volume
Año:2010
Volumen:95
Número:11
Página de inicio:E373
Página de fin:E383
DOI: http://dx.doi.org/10.1210/jc.2009-2556
Título revista:Journal of Clinical Endocrinology and Metabolism
Título revista abreviado:J. Clin. Endocrinol. Metab.
ISSN:0021972X
CODEN:JCEMA
CAS:growth hormone, 36992-73-1, 37267-05-3, 66419-50-9, 9002-72-6; liothyronine, 6138-47-2, 6893-02-3; octreotide, 83150-76-9, 1607842-55-6; somatomedin C, 67763-96-6; thyrotropin, 9002-71-5; thyroxine, 7488-70-2
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0021972X_v95_n11_pE373_Daly

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Citas:

---------- APA ----------
Daly, A.F., Tichomirowa, M.A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M.-L., Barlier, A., Naves, L.A.,..., Beckers, A. (2010) . Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study. Journal of Clinical Endocrinology and Metabolism, 95(11), E373-E383.
http://dx.doi.org/10.1210/jc.2009-2556
---------- CHICAGO ----------
Daly, A.F., Tichomirowa, M.A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M.-L., Barlier, A., et al. "Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study" . Journal of Clinical Endocrinology and Metabolism 95, no. 11 (2010) : E373-E383.
http://dx.doi.org/10.1210/jc.2009-2556
---------- MLA ----------
Daly, A.F., Tichomirowa, M.A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M.-L., Barlier, A., et al. "Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study" . Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 11, 2010, pp. E373-E383.
http://dx.doi.org/10.1210/jc.2009-2556
---------- VANCOUVER ----------
Daly, A.F., Tichomirowa, M.A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M.-L., Barlier, A., et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study. J. Clin. Endocrinol. Metab. 2010;95(11):E373-E383.
http://dx.doi.org/10.1210/jc.2009-2556