Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening
Autor: | Vânia dos Santos Nunes, G. L. Souza, Denise Perone, Célia Regina Nogueira, Sandro José Conde |
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Rok vydání: | 2013 |
Předmět: |
Adenoma
congenital hereditary and neonatal diseases and abnormalities endocrine system medicine.medical_specialty Pathology endocrine system diseases Endocrinology Diabetes and Metabolism medicine.disease_cause Genetic analysis Asymptomatic Endocrinology Pituitary adenoma Internal medicine Multiple Endocrine Neoplasia Type 1 Humans Medicine Pituitary Neoplasms MEN1 In patient Genetic Testing Multiple endocrine neoplasia Retrospective Studies Mutation Polymorphism Genetic business.industry Hyperparathyroidism Primary medicine.disease Pedigree Calcium medicine.symptom business Primary hyperparathyroidism |
Zdroj: | Pituitary. 17:30-37 |
ISSN: | 1573-7403 1386-341X |
DOI: | 10.1007/s11102-013-0462-8 |
Popis: | 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. |
Databáze: | OpenAIRE |
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