References of "Daly, Adrian"
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See detailHyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation.
Villa, C.; Lagonigro, M. S.; Magri, F. et al

in Endocrine-Related Cancer (2011)

Mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene are associated with pituitary adenomas that usually occur as familial isolated pituitary adenomas (FIPA). Detailed pathological ... [more ▼]

Mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene are associated with pituitary adenomas that usually occur as familial isolated pituitary adenomas (FIPA). Detailed pathological and tumor genetic data on AIP mutation-related pituitary adenomas are scarce. Non-identical twin females presented as adolescents to the emergency department with severe progressive headaches caused by large pituitary macroadenomas requiring emergency neurosurgery; one patient had incipient pituitary apoplexy. Post-surgically the patients were found to have silent somatotrope adenomas on pathological examination. Furthermore, the light microscopic, immunohistochemical and electron microscopic studies demonstrated tumors of virtually identical characteristics. The adenomas were accompanied by multiple areas of pituitary hyperplasia, which stained positively for growth hormone, indicating somatotrope hyperplasia. Genetic analyses of the FIPA kindred revealed a novel E216X mutation of the AIP gene, which was present in both affected patients and the unaffected father. Molecular analysis of surgical specimens revealed loss of heterozygosity (LOH) in the adenoma, but showed that LOH was not present in the hyperplasic pituitary tissue from either patient. AIP immunostaining confirmed normal staining in the hyperplastic tissue and decreased staining in the adenoma in the tumors from both patients. These results demonstrate that patients with AIP germline mutation can present with clinically silent somatotroph pituitary adenomas. The finding of somatotrope hyperplasia unaccompanied by AIP LOH, suggests that LOH at the AIP locus may be a late event in the progression from hyperplastic to adenomatous tissue. [less ▲]

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See detailGenetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications
Jaffrain-Rea, Marie-Lise; Daly, Adrian ULg; Angelini, Mariolina et al

in Expert Review of Endocrinology & Metabolism (2011)

Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of ... [more ▼]

Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a variety of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the presence of specific clinical settings, such as familial occurrence of PA, with or without extrapituitary diseases, and may also be suspected in young patients with macroadenomas. We <br />review the clinical implications of genetic predisposition, with special attention to Multiple Endocrine Neoplasia type 1 (MEN1), Carney’s complex (CNC) and FIPA (Familial Isolated Pituitary Adenoma), and the scenario of genetic screening in selected patients with an apparently sporadic disease is discussed. [less ▲]

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See detailMutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
Livadariu, E.; Auriemma, R. S.; Rydlewski, C. et al

in European Journal of Endocrinology (2011)

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR ... [more ▼]

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CaSR function. Patients and Methods: A 16 yr-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia (FHH) was originally excluded. The second patient was a 54 yr-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CaSR gene was sequenced in both probands and their available first-degree relatives. Results: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. Conclusions: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management. [less ▲]

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See detailA familial pituitary tumor syndromes
Vasilev, Vladimir; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists (2011), 17(3),

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See detailImpact of germline AIP mutations on tumor characteristics and Management in young acromegalic patients : results of an age-and tumor diameter matched cohort study
Tichomirowa, Maria A.; Theodoropoulou, Marily; Daly, Adrian ULg et al

in Abstract book - Endo 2011 (2011)

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See detailImpact des mutations germinales du gène AIP sur les caractéristiques tumorales et la prise en charge médicale chez les patients acromégales jeunes : résultats d'une étude sur des populations appariées pour l'âge et le diamètre de la tumeur
Beckers, Albert ULg; Tichomirowa, m; Theodoropoulou, M. et al

in Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie (2011)

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See detailA tall man with hypogonadism
Daly, Adrian ULg; VALDES SOCIN, Hernan Gonzalo ULg; Beckers, Albert ULg

in Diagnostic Dilemmas : Images in Endocrinology (2011)

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See detailWhat to do with a pituitary incidentaloma ?
Beckers, Albert ULg; Daly, Adrian ULg

in Expert Review of Endocrinology & Metabolism (2011)

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See detailA novel AIP mutation related to familial isolated pituitary adenomas (FIPA)
Bilbao, I.; Alvarez coca, M.; Daly, Adrian ULg et al

in Abstract book - The Endocrine Society's 93rd Annual Meeting (2011)

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See detailAggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene.
Naves, Luciana; Jaffrain-Rea, Marie-Lise; Vencio, Sergio Alberto et al

in Arquivos Brasileiros de Endocrinologia e Metabologia (2010), 54(8), 761-767

The objective of this study was to describe a familial screening for AIP mutations in the context of aggressive prolactinoma in childhood. A 12-year-old boy, presented headaches and bilateral hemianopsia ... [more ▼]

The objective of this study was to describe a familial screening for AIP mutations in the context of aggressive prolactinoma in childhood. A 12-year-old boy, presented headaches and bilateral hemianopsia. He had adequate height and weight for his age (50(th) percentile), Tanner stage G1 P1. His bone age was 10 years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1, TSH, Free T4, ACTH, and cortisol were within normal ranges. MRI showed a pituitary macroadenoma, 5.3 X 4.0 X 3.5 cm with compression of the optic chiasm, bilateral cavernous sinus invasion, encasement of carotids, and extension to clivus. Surgical debulking was performed. Resistance to cabergoline was characterized and he was submitted to two surgeries and radiotherapy. Immunohistochemical evaluation included prolactin, ACTH, GH, FSH, LH,AIP, c-erb B2, Ki-67, and p53. Genomic DNA was isolated from the index case and 48 relatives, PCR and sequencing were performed.A germline A195V mutation in AIP was identified in the index case and in five asymptomatic relatives. Germline mutations in the AIP gene may be involved in the predisposition to pituitary adenoma formation, as cause or co-factor in pathogenesis of aggressive tumors in young patients. [less ▲]

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See detailMutations AIP chez les jeunes patients en dessous de 30 ans avec adénome hypophysaire agressif
Beckers, Albert ULg; Tichomirowa, M.; Barlier, A. et al

in Annales d'Endocrinologie (2010, September), 71(5), 397

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See detailDeux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie
Thonnard, Anne-Sophie ULg; Livadariu, Elena ULg; Rydlewski, C. et al

in Annales d'Endocrinologie (2010, September), 71(5), 367

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See detailGenetics of Cushing's Syndrome
Yaneva, M.; Vandeva-Kalvacheva, Silvia ULg; Zacharieva, S. et al

in Neuroendocrinology (2010), 92((supp. 1)), 6-10

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often ... [more ▼]

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular morbidity and mortality. Multiple genetic alterations have been described in the setting of sporadic corticotropinoma formation. Changes in the expression profiles have been demonstrated in growth factors and their receptors, cell-cycle regulators and in various genes related to hormonal gene transcription, synthesis and secretion. Sporadic adrenal adenomas and carcinomas may demonstrate dysfunction in genes such as TP53 among others. Cushing's disease can be an inherited condition also. Multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenomas (FIPA) together account for 5% of pituitary adenomas. Cushing's disease occurs infrequently in an inherited setting in both of these conditions. To date only 2 cases of Cushing's disease have been described in association with mutations in AIP. One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene. Carney complex (CNC) due to PRKAR1A mutations in most cases is associated with CS, mainly as a cause of bilateral adrenal hyperplasia. The cAMP signaling pathway is affected in this setting. In recent times the involvement of genes such as PDE11A, PDE8B and others have expanded the spectrum of the genetic pathophysiology of CS. [less ▲]

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See detailUn nouveau marqueur tumoral pour le carcinome parathyroïdien? Résultats observés chez 24 patients
Cavalier, Etienne ULg; Daly, Adrian ULg; Betea, Daniela ULg et al

in Annales d'Endocrinologie (2010, September), 71(5), 350-351

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See detailEtude génétique et anatomopathologique du syndrome de McCune-Albright chez l'adulte
Beckers, Albert ULg; Burlacu, Maria Cristina ULg; Thiry, Albert ULg et al

in Annales d'Endocrinologie (2010, September), 71(5), 345

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See detailEtude de la séquence hyperplasie-adénome dans la tumorigenèse de l'hypophyse : rôle des mutations du gène
Villa, C.; Lagonigro, M.; Magri, F. et al

in Annales d'Endocrinologie (2010, September), 71(5), 411

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See detailCaractéristiques des prolactinomes résistants aux agonistes dopaminergiques
Vroonen, Laurent ULg; Tamagno, G.; Naves, L. et al

in Annales d'Endocrinologie (2010, September), 71(5), 347

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See detailCaractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes
Jaffrain-Rea, M. L.; Angelini, M.; Tichomirowa, M. et al

in Annales d'Endocrinologie (2010, September), 71(5), 406

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