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Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening

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Abstract

The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (MEN1) in patients with pituitary adenoma and to perform genetic analysis and familial screening of those individuals afflicted with MEN1. 144 patients with pituitary adenoma at Botucatu Medical School, UNESP—Univ Estadual Paulista, were assessed retrospectively for MEN1 during the years of 2005–2011. The patients were evaluated for the presence of primary hyperparathyroidism (PHP) and enteropancreatic tumors. Genetic analysis was performed for the individuals with clinically diagnosed MEN1. Thirteen patients met the diagnostic criteria for MEN1, but three individuals belong to the same family and they were considered as a single MEN1 event, revealing 7.7 % frequency of MEN1 in this patient group. Genetic analysis showed MEN1 mutations in four index cases: IVS4+1 G>A, IVS3-6 C>T, c.1547insC and a new D180A mutation. One patient did not agree to participate in the genetic study and another one was referred for follow up in other hospital. Only polymorphisms were found in the other individuals, one of which was novel. We identified a high frequency of MEN1 in pituitary adenoma patients. Since PHP is one of the most common MEN1 tumor and patients are mostly asymptomatic, we suggest that all pituitary adenoma patients have their calcium profile analyzed.

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Acknowledgments

We especially thank Rodrigo A. Toledo and the other members of Unidade de Endocrinologia Genética, Laboratório de Investigação Médica (LIM 25), Endocrinologia, Faculdade de Medicina da Universidade de São Paulo for having performed the genetic study of one patient. The authors also thank the team of the Laboratory of Molecular Biology, especially Sueli A. Clara, Maria Teresa de Sibio, Renata Luvizzoto, all the collaborators at the Division of Endocrinology, Department of Medicine, Botucatu Medical School, Univ. Estadual Paulista and all patients enrolled in this project. The authors’ research was supported by São Paulo State Research Foundation (FAPESP).

Conflict of interest

There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

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Authors and Affiliations

  1. Laboratory of Molecular Biology, Department of Internal Medicine, Botucatu Medical School, UNESP, Univ Estadual Paulista, Botucatu, Brazil

    V. S. Nunes, G. L. Souza, D. Perone, S. J. Conde & C. R. Nogueira

  2. Departamento de Clinica Médica, FMB, UNESP, Distrito de Rubião Junior s/no, Botucatu, SP, 18618-970, Brazil

    V. S. Nunes

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  1. V. S. Nunes
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  2. G. L. Souza
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  4. S. J. Conde
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  5. C. R. Nogueira
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Correspondence to V. S. Nunes.

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Nunes, V.S., Souza, G.L., Perone, D. et al. Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening. Pituitary 17, 30–37 (2014). https://doi.org/10.1007/s11102-013-0462-8

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