Pituitary tumors in patients with MEN1 syndrome

Syro, Luis V.; Scheithauer, Bernd W.; Kovács, K.; Toledo, Rodrigo A.; Londoño, Federico Uribe; Ortíz, León Darío; Rotondo, Fabio; Horváth, Éva; Uribe, Humberto

doi:10.6061/clinics/2012(sup01)09

Cited by 49 publications

(38 citation statements)

References 59 publications

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“…3,4,21,[32][33][34]51 Most of those who develop pituitary tumors do so in their 4 th to 6 th decade of life, and presentation prior to the age of 20 is unusual. 19,21,32 Pituitary adenomas are significantly more frequent in females than males.…”

Section: Pituitarymentioning

confidence: 99%

“…32,33,36 Most series suggest an increased size of MEN1-associated prolactinomas with up to 85% presenting as macroprolactinomas (as opposed to 10% in the sporadic setting), while Cushing's disease is more commonly the result of a macroadenoma or multiple pituitary tumors. 3,32,82 Somatotropinomas most commonly present as macroadenomas regardless of underlying germline status.…”

Section: Pituitarymentioning

confidence: 99%

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Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

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Multiple endocrine neoplasia type 1 (MEN1) is inherited in an autosomal dominant fashion and predisposes to the development of hyperplastic or neoplastic changes in the parathyroid and pituitary glands and the endocrine pancreas, along with numerous other characteristic tumors and features. The management of each entity differs to some degree from their sporadic counterparts, while the lack of a genotype-phenotype correlation requires lifelong clinical, biochemical and radiological screening for the development of new tumors. While the syndrome itself is relatively rare (a prevalence of 1-10/100 000), it is likely that health-care practitioners from numerous specialities will occasionally encounter a patient with MEN1 and therefore a basic knowledge of the syndrome is important. In addition, many of the associated tumors are seen commonly in sporadic form, and a judicious policy is therefore required in deciding how thoroughly patients who develop these tumors should be screened for MEN1. The current literature on MEN1 is reviewed and key learning points are suggested for the clinician.

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Section: Pituitarymentioning

confidence: 99%

Section: Pituitarymentioning

confidence: 99%

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

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“…Whereas hyperparathyroidism is frequently reported as the first manifestation of MEN1 syndrome, pituitary disease can be the first lesion diagnosed in about 15% of patients with mutations in MEN1 (MEN1mut) (13,14). Nevertheless, unlike AIP, there is limited data concerning the prevalence of MEN1 mutations in the specific subset of young patients diagnosed with isolated macroadenomas without any other disease of the MEN1 spectrum.…”

Section: Introductionmentioning

confidence: 97%

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Cuny

Pertuit

Sahnoun-Fathallah

et al. 2013

European Journal of Endocrinology

153

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Context: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age %30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a population. Objective: We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age %30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions. Design: The entire coding sequences of AIP and MEN1 were screened for mutations. In cases of negative sequencing screening, multiplex ligation-dependent probe amplification was performed for the detection of large genetic deletions. Patients and settings: One hundred and seventy-four patients from endocrinology departments of 15 French University Hospital Centers were eligible for this study. Results: Twenty-one out of 174 (12%) patients had AIP (nZ15, 8.6%) or MEN1 (nZ6, 3.4%) mutations. In pediatric patients (age %18 years old), AIP/MEN1 mutation frequency reached nearly 22% (nZ10/46). AIPmut and MEN1mut were identified in 8/79 (10.1%) and 1/79 (1.2%) somatotropinoma patients respectively; they each accounted for 4/74 (5.4%) prolactinoma (PRL) patients with mutations. Half of those patients (nZ3/6) with gigantism displayed mutations in AIP. Interestingly, 4/12 (33%) patients with non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the eight corticotroph adenomas or the single thyrotropinoma case had mutations. No large gene deletions were observed in sequencing-negative patients. Conclusion: Mutations in MEN1 can be of significance in young patients with sporadic isolated pituitary macroadenomas, particularly PRL, and together with AIP, we suggest genetic analysis of MEN1 in such a population.

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“…Germline mutations that cause familial predisposition to pituitary tumors, including multiple endocrine neoplasia (MEN) type 1 (MEN1), MEN4, Carney complex and familial isolated pituitary adenoma, as well as mutations in genes encoding succinate dehydrogenase (SDHB, SDHC and SDHD) [42], have also been linked with a tendency to present with a more aggressive clinical course than sporadic adenomas [43,44,45]. …”

Section: Evolving Biomarkers Of Pituitary Tumor Aggressivenessmentioning

confidence: 99%

Aggressive Pituitary Tumors

et al. 2015

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Pituitary adenomas are common intracranial tumors that are mainly considered as benign. Rarely, these tumors can exhibit an aggressive behavior, characterized by gross invasion of the surrounding tissues, resistance to conventional treatment leading to early and frequent recurrences. Even more rarely, pituitary tumors can give rise to cerebrospinal or systemic metastases qualifying as pituitary carcinomas according to the latest WHO definition. In the same classification, a subset of tumors with relatively distinct histopathological features was identified and defined as atypical adenomas designated to follow a more aggressive clinical course. This classification, although clinically useful, does not provide an accurate correlation between histopathological findings and the clinical behavior of these tumors, neither is it adequate to convey the precise features of ‘aggressive' tumors. Thus, ‘aggressive' pituitary adenomas need to be properly defined with clinical, radiological, histological and molecular markers in order to identify patients at increased risk of early recurrence or subsequent tumor progression. At present, no single marker or classification system of pituitary tumor aggressiveness exists, and clinically useful information in the literature is insufficient to guide diagnostic and therapeutic decisions. Treatment of patients with aggressive pituitary tumors is challenging since conventional treatments often fail, necessitating multiple surgical procedures with additional radiotherapy. Although traditional chemotherapy applied in other neuroendocrine tumors has not been shown to be efficacious, newer agents, particularly temozolomide, have shown promising results and are currently used despite the lack of data from a randomized prospective trial. Molecular targeted therapies such as mTOR and epidermal growth factor inhibitors have also been applied and might prove to be useful in the management of these patients. In the present review, we provide information regarding the epidemiology and clinical, histopathological and molecular features of aggressive pituitary tumors using recent employed definitions. In addition, we review currently employed therapeutic means providing a therapeutic algorithm and highlight the need to identify more specific disease-related and prognostic markers and the necessity for central registration of these tumors.

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Pituitary tumors in patients with MEN1 syndrome

Cited by 49 publications

References 59 publications

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 1 (MEN1)

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Aggressive Pituitary Tumors

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