Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications

Jaffrain-Rea, Marie Lise; Daly, Adrian; Angelini, M.; Pétrossians, Patrick; Beckers, Albert

doi:10.1586/eem.10.87

Cited by 17 publications

(15 citation statements)

References 130 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The contribution of MEN1 (5.4% clinical and 3.2% genetic) is not surprising since prolactinomas are the most common MEN1-related PAs and are more frequently hormonally resistant than sporadic prolactinomas (3). Prolactinomas are also the most prevalent phenotype in FIPA kindreds (4,5), and a FIPA context was recognized in 3.3% of our patients. Excluding the intronic variant of uncertain significance, AIP mutations were found in 1/3 FIPA patients and in 3/22 sporadic patients (13.6%).…”

Section: Discussionmentioning

confidence: 66%

See 1 more Smart Citation

Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients

Vroonen

Jaffrain-Rea

Pétrossians

et al. 2012

European Journal of Endocrinology

Self Cite

181

113

View full text Add to dashboard Cite

Background: Dopamine agonist resistance in prolactinoma is an infrequent phenomenon. Doses of cabergoline (CAB) of up to 2.0 mg/week are usually effective in controlling prolactin (PRL) secretion and reducing tumor size in prolactinomas. The clinical presentation, management, and outcome of patients that are not well controlled by such commonly used doses of CAB-resistant patients are poorly understood. Design and methods: A multicenter retrospective study was designed to collect a large series of resistant prolactinoma patients, defined by uncontrolled hyperprolactinemia on CAB R2.0 mg weekly.

show abstract

Section: Discussionmentioning

confidence: 66%

“…Prolactinomas account for 40-60% of all PA; they occur usually in females aged 20-50 years old and up to 80% present as microadenomas (2). Although they are usually sporadic, up to 5% of PA overall may present in a familial or genetic setting such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated PAs (FIPAs) (3,4,5).…”

Section: Introductionmentioning

confidence: 99%

Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients

Vroonen

Jaffrain-Rea

Pétrossians

et al. 2012

European Journal of Endocrinology

Self Cite

181

113

View full text Add to dashboard Cite

show abstract

“…Testing for AIPmut in children and young adults diagnosed with macroadenomas could be a useful addition to screening in FIPA kindreds considering the relatively high incidence of AIPmut in this welldefined and readily encountered sub-population (33).…”

Section: Discussionmentioning

confidence: 99%

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas

Tichomirowa¹,

Barlier²,

Daly³

et al. 2011

European Journal of Endocrinology

Self Cite

152

126

View full text Add to dashboard Cite

Background: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. Methods: We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at !30 years of age. Results: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary adenoma patients. Large genetic deletions were not seen using multiplex ligation-dependent probe amplification. Familial screening was possible in the relatives of seven patients with AIPmut and carriers were found in six of the seven families. In total, pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas. Conclusion: Germline AIPmut occur in 11.7% of patients !30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients. AIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management.

show abstract

“…Carney complex, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 1 should be considered (DR) [71]. An increased awareness that FIPA is associated with mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene is required [70, 72–74].…”

Section: Treatment Outcomes In Selected Clinical Conditionsmentioning

confidence: 99%

A consensus on the diagnosis and treatment of acromegaly complications

et al. 2012

View full text Add to dashboard Cite

In March 2011, the Acromegaly Consensus Group met to revise and update the guidelines on the diagnosis and treatment of acromegaly complications. The meeting was sponsored by the Pituitary Society and the European Neuroendocrinology Association and included experts skilled in the management of acromegaly. Complications considered included cardiovascular, endocrine and metabolic, sleep apnea, bone diseases, and mortality. Outcomes in selected, related clinical conditions were also considered, and included pregnancy, familial acromegaly and invasive macroadenomas. The need for a new disease staging model was considered, and design of such a tool was proposed.

show abstract

Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications

Cited by 17 publications

References 130 publications

Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients

Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas

A consensus on the diagnosis and treatment of acromegaly complications

Contact Info

Product

Resources

About