Cyclin dependent kinase inhibitor (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenomas (FIPA) kindreds; ; et al in Endocrine-Related Cancer (2012), 19 Detailed reference viewed: 4 (1 ULg) Faut-il rechercher des anomalies génétiques constitutionnelles des gènes AIP et MEN1 chez un sujet jeune atteint d'adénome hypophysaire isolé sporadique ?; ; et al in Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie (2011) Detailed reference viewed: 6 (0 ULg) Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas - An International Collaborative StudyDaly, Adrian ; ; Petrossians, Patrick et alin Journal of Clinical Endocrinology and Metabolism (2010), 95(11), 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 ... [more ▼] 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. [less ▲] Detailed reference viewed: 66 (33 ULg) Mutations AIP chez les jeunes patients en dessous de 30 ans avec adénome hypophysaire agressifBeckers, Albert ; ; et alin Annales d'Endocrinologie (2010, September), 71(5), 397 Detailed reference viewed: 18 (3 ULg) Caractéristiques cliniques et réponses thérapeutiques des patients avec adénome hypophysaire mutés pour AIP : étude internationale sur 96 casBeckers, Albert ; Daly, Adrian ; Petrossians, Patrick et alin Annales d'Endocrinologie (2010, September), 71(5), 346 Detailed reference viewed: 12 (2 ULg) Etude génétique et anatomopathologique du syndrome de McCune-Albright chez l'adulteBeckers, Albert ; Burlacu, Maria Cristina ; Thiry, Albert et alin Annales d'Endocrinologie (2010, September), 71(5), 345 Detailed reference viewed: 10 (1 ULg) Caractéristiques des prolactinomes résistants aux agonistes dopaminergiquesVroonen, Laurent ; ; et alin Annales d'Endocrinologie (2010, September), 71(5), 347 Detailed reference viewed: 24 (3 ULg) Caractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes; ; et al in Annales d'Endocrinologie (2010, September), 71(5), 406 Detailed reference viewed: 17 (8 ULg) Mutations AIP chez les jeunes patients en-dessous de 30 ans avec adénome hypophysaire agressifBeckers, Albert ; ; et alin 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September) Detailed reference viewed: 22 (4 ULg) Recherche de la mutation du gène CDKN1B dans les adénomes hypophysaires familiaux isolés (FIPA): analyse de 86 famillesBeckers, Albert ; ; et alin Annales d'Endocrinologie (2010, September), 71(5), 398 Detailed reference viewed: 13 (5 ULg) Factors associated with AIP expression in somatotropinomas and the possible influence of somatostatin analogues; ; et al in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September) Detailed reference viewed: 7 (1 ULg) Cyclin dependent kinase inhibitor 1B (CDKN1B) gene mutations in FIPA; ; et al in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September) Detailed reference viewed: 16 (3 ULg) Anatomo-pathological and genetic studies of adult McCune-Albright syndromeBurlacu, Maria Cristina ; Thiry, Albert ; Livadariu, Elena et alin European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September) Detailed reference viewed: 10 (1 ULg) High Prevalence of AIP Gene Mutations Following Focussed Screening in Young Patients with Sporadic Pituitary Macroadenomas; ; Daly, Adrian et alin European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September) Detailed reference viewed: 13 (3 ULg) Caractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes; ; et al in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September) Detailed reference viewed: 23 (13 ULg) Caractéristiques cliniques et réponses thérapeutiques des patients avec adénome hypophysaire mutés pour AIP : étude internationale sur 96 casBeckers, Albert ; Daly, Adrian ; Petrossians, Patrick et alin 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September) Detailed reference viewed: 10 (2 ULg) Comprehensive study about the characteristics of 80 dopaminergic agonist resistants prolactinomasVroonen, Laurent ; ; et alin European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September) Detailed reference viewed: 16 (5 ULg) Recherche de la mutation du gène CDKN1B dans les adénomes hypophysaires familiaux isolés (FIPA) : analyse de 86 famillesBeckers, Albert ; ; et alin 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September) Detailed reference viewed: 22 (10 ULg) Etude génétique et anatomopathologique du syndrome de McCune-Albright chez l'adulteBeckers, Albert ; ; Thiry, Albert et alin 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September) Detailed reference viewed: 11 (6 ULg) Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.; ; et al in Endocrine-Related Cancer (2009), 16(3), 1029-1043 Germline mutations of the aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated PA. To provide ... [more ▼] Germline mutations of the aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated PA. To provide further insights into the possible role of AIP in pituitary tumour pathogenesis, the expression of AIP and AHR was determined by real-time RT-PCR and/or immunohistochemistry (IHC) in a large series of PA (n=103), including 17 with AIP mutations (AIP(mut)). Variable levels of AIP and AHR transcripts were detected in all PA, with a low AHR expression (P<0.0001 versus AIP). Cytoplasmic AIP and AHR were detected by IHC in 84.0 and 38.6% of PA respectively, and significantly correlated with each other (P=0.006). Nuclear AHR was detected in a minority of PA (19.7%). The highest AIP expression was observed in somatotrophinomas and non-secreting (NS) PA, and multivariate analysis in somatotrophinomas showed a significantly lower AIP immunostaining in invasive versus non-invasive cases (P=0.019). AIP expression was commonly low in other secreting PA. AIP immunostaining was abolished in a minority of AIP(mut) PA, with a frequent loss of cytoplasmic AHR and no evidence of nuclear AHR. In contrast, AIP overexpression in a subset of NS PA could be accompanied by nuclear AHR immunopositivity. We conclude that down-regulation of AIP and AHR may be involved in the aggressiveness of somatotrophinomas. Overall, IHC is a poorly sensitive tool for the screening of AIP mutations. Data obtained on AHR expression suggest that AHR signalling may be differentially affected according to PA phenotype. [less ▲] Detailed reference viewed: 22 (4 ULg) |
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