دورية أكاديمية
MEN1 syndrome: an anusual case
| العنوان: | MEN1 syndrome: an anusual case |
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| المؤلفون: | Elena Guidetti, Monica Cevenini, Maria Luigia Cipollini, Martina Ferrata, Paola Tomassetti, Roberto Corinaldesi |
| المصدر: | Clinical Management Issues, Vol 6, Iss 1S, Pp 23-28 (2015) |
| بيانات النشر: | SEEd, 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Medicine (General) |
| مصطلحات موضوعية: | Multiple endocrine neoplasia type 1, MEN1 Gene, Genetic testing, Gastrinoma, Pancreatic neuroendocrine tumors, Medicine (General), R5-920 |
| الوصف: | Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant endocrine disorder and is characterised by the concurrent appearance of adenomas of the parathyroid glands, neuroendocrine-enteropancreatic tumours, and pituitary adenomas, as well as other types of less frequent tumours, such as adrenal cortical tumours, carcinoid tumours, lipomas, etc. Two different forms, familial and sporadic, have been described. The gene responsible, MEN1, consists of 10 exons encoding a 610-amino acid protein known as menin. The MEN1 syndrome is caused by inactivating mutations in MEN1 tumour suppressor gene. The combination of clinical and genetic investigation helps in the diagnosis. Genetic testing has been advocated to identify MEN1 carriers of the MEN1 families for the purpose of earlier detection of tumours. We present a patient with traditionally described manifestations of MEN1 (a parathyroid hyperplasia associated with a pancreatic neuroendocrine tumour and a gastrinoma), but with a negative genetic test for the MEN1 mutation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1973-4832 2283-3137 |
| العلاقة: | https://journals.seedmedicalpublishers.com/index.php/cmi/article/view/493Test; https://doaj.org/toc/1973-4832Test; https://doaj.org/toc/2283-3137Test |
| DOI: | 10.7175/cmi.v6i1S.493 |
| الوصول الحر: | https://doaj.org/article/8069c723bfad4a558e8ada4b81602cb7Test |
| رقم الانضمام: | edsdoj.8069c723bfad4a558e8ada4b81602cb7 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 19734832 22833137 |
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| DOI: | 10.7175/cmi.v6i1S.493 |