Cytogenetical investigations in patients with primary hyper-parathyroidism and multiple endocrine neoplasia type 1
نویسندگان
چکیده
منابع مشابه
Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1
Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1). This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of...
متن کاملMenin mutations in patients with multiple endocrine neoplasia type 1.
Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with parathyroid, pituitary and enteropancreatic tumors. The disease phenotype segregates with markers on chromosome 11q13. Very recently a new gene was cloned from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 patients. The gene was termed menin and is predicted to code for a tumor suppressor p...
متن کاملMultiple endocrine neoplasia type 1
Combined clinical and laboratory investigations of MEN-1 have resulted in an increased understanding of this disorder, which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN-1 has improved patient management and treatment and has facilitated a screening protocol. Application of the techniques of molecular biology has enabled the ide...
متن کاملMultiple endocrine neoplasia type 1.
Multiple endocrine neoplasia-1 (MEN-1) is an autosomal dominant inherited syndrome that occurs due to inactivating mutations of the MEN1 gene locus, coding for a tumor-suppressor protein, menin. The components of MEN-1 are hyperparathyroidism due to multiple parathyroid adenomas, pancreatic neuroendocrine tumors, and pituitary adenomas, in addition to some less common neoplastic manifestations....
متن کاملMultiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transf...
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ژورنال
عنوان ژورنال: Hereditas
سال: 2008
ISSN: 0018-0661
DOI: 10.1111/j.1601-5223.1988.tb00306.x