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See detailExpression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.
Jaffrain-Rea, M. L.; Angelini, M.; Gargano, D. 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 ▲]

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See detailMutaciones de AIP en adenomas hipofisarios familiares y esporadicos: experiencia local y revision de la literatura.
Fajardo-Montanana, C.; Daly, Adrian ULg; Riesgo-Suarez, P. et al

in Endocrinologia y Nutricion (2009), 56(7), 369-377

Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes ... [more ▼]

Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes such as multiple endocrine neoplasia (MEN)-1 and Carney complex. When 2 or more cases of pituitary adenomas occur in the same family in the absence of the above-mentioned syndromes, a diagnosis of FIPA (familial isolated pituitary adenomas) is made, which accounts for 1-2% of all pituitary adenomas. Mutations of the gene AIP (aryl hydrocarbon receptor-interacting protein) may account for 15% of FIPA families (50% of familial acromegaly), and as such the genetic causes continue to be studied. Also mutations in AIP can be detected in sporadic adenomas among young populations (< 30 years of age). We describe the characteristics of FIPA, detailing the study of a spanish family, in this case AIP mutation negative. Also, the reported findings in sporadic adenomas in the young population are detailed, accompanied by the description of a 19- year old patient with an intronic AIP mutation. Multicenter studies have provided understanding of aspects such as mutations in AIP; however, further studies are necessary to identify other genes involved in FIPA and sporadic pituitary adenomas occurring at a young age. [less ▲]

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See detailFamilial pituitary adenomas.
Tichomirowa, M. A.; Daly, Adrian ULg; Beckers, Albert ULg

in Journal of Internal Medicine (2009), 266(1), 5-18

The majority of pituitary adenomas occur sporadically, however, about 5% of all cases occur in a familial setting, of which over half are due to multiple endocrine neoplasia type 1 (MEN-1) and Carney's ... [more ▼]

The majority of pituitary adenomas occur sporadically, however, about 5% of all cases occur in a familial setting, of which over half are due to multiple endocrine neoplasia type 1 (MEN-1) and Carney's complex (CNC). Since the late 1990s we have described non-MEN1/CNC familial pituitary tumours that include all tumour phenotypes, a condition named familial isolated pituitary adenomas (FIPA). The clinical characteristics of FIPA vary from those of sporadic pituitary adenomas, as patients with FIPA have a younger age at diagnosis and larger tumours. About 15% of FIPA patients have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), which indicates that FIPA may have a diverse genetic pathophysiology. This review describes the clinical features of familial pituitary adenomas like MEN1, the MEN 1-like syndrome MEN-4, CNC, FIPA, the tumour pathologies found in this setting and the genetic/molecular data that have been recently reported. [less ▲]

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See detailNew therapeutics in Acromegaly
Beckers, Albert ULg

Scientific conference (2009, June)

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See detailFamilial Pituitary Adenomas
Beckers, Albert ULg

Scientific conference (2009, June)

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See detailThe Epidemiology of Acromegaly
Beckers, Albert ULg; Daly, Adrian ULg

in John Wass (Ed.) Acromegaly book (2009)

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See detailLes leçons de Moïse sur la reproduction humaine
Beckers, Albert ULg

Scientific conference (2009, May 29)

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See detailEpidemiology and Genetics of pituitary adenomas
Beckers, Albert ULg

Scientific conference (2009, May 01)

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See detailGenetics of Pituitary Adenomas
Beckers, Albert ULg

Scientific conference (2009, May)

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See detailRound table discussion on glucocorticoid replacement therapy
Beckers, Albert ULg

Scientific conference (2009, April 27)

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See detailTherapeutic options to achieve biochemical and tumor control in treatment - resistant patient
Beckers, Albert ULg

Scientific conference (2009, April)

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See detailEpidemiology and Genetics of pituitary adenomas
Beckers, Albert ULg

Scientific conference (2009, March 02)

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See detailHigh Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas
Tichomirova, M.; Daly, Adrian ULg; Jaffrain-Réa, M. L. et al

in 52 Symposium der Deutschen Gesellschaft für Endokrinologie (2009, March)

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See detailCyclin dependant kinase inhibitor 1B (CDKN1B) gene mutations in familial isolated pituitary adenomas (FIPA) : Analysis in 86 families
Tichomoriva, M.; Barlier, A.; Daly, Adrian ULg et al

in 52 Symposium der Deutschen Gesellschaft für Endokrinologie (2009, March)

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See detailFactors influencing pharmacological treatment in acromegaly
Beckers, Albert ULg

Scientific conference (2009, March)

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See detailAspects cliniques et génétiques d'adénomes hypophysaires familiaux et sporadiques
Beckers, Albert ULg

Scientific conference (2009, January 22)

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See detailToute la thyroïdologie courante en 75 minutes
Beckers, Albert ULg

Scientific conference (2009, January 16)

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See detailCaractérisation clinique et génétique des adénomes hypophysaires familiaux (FIPA)
Beckers, Albert ULg

Scientific conference (2009, January 15)

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See detailAdénomes hypophysaires familiaux.
Burlacu, M. C.; Tichomirowa, M.; Daly, Adrian ULg et al

in Presse Médicale (2009), 38(1), 112-116

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known ... [more ▼]

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known condition in the category of familial isolated pituitary adenomas (FIPA). Familial adenomas account for 3-5% of all pituitary adenomas. Their pathogenesis is known in part: mutations of the menin gene in NEM1 (80%), of the CDKN1B gene in NEM4 (several cases described), of the PRKR1A gene in CNC (50%) and the AIP gene in 15% of FIPA cases (50% of the FIPA cases with a homogeneous somatotropic phenotype). The clinical course of familial adenoma with NEM1 or FIPA is more aggressive than that of sporadic adenoma, with more macroadenomas and more patients diagnosed younger. Familial pituitary adenomas are distinguished from the sporadic forms in their genetic, epidemiologic and clinical characteristics. They require a differentiated management, especially concerning screening. [less ▲]

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See detailLa mutazione R304X del gene AIP negli adenomi ipofisari : caratteristiche bio-cliniche e aspetti genetici e funzionali
Jaffrain-Réa, M. L.; Occhi, G.; de Menis, E. et al

in 4th Incontri Italiano Sulle Malattie Ipotalamo-Ipofisarie : Ferrara 29-31 gennaio 2009 (2009, January)

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