Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia
نویسندگان
چکیده
منابع مشابه
A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation.
BACKGROUND Multiple endocrine neoplasia (MEN) type 1 syndrome is an uncommon inherited disorder characterized by the occurrence of tumors involving two or more endocrine glands. These tumors include pheochromocytoma, adrenal cortical and neuroendocrine tumors including (bronchopulmonary, thymic, gastric), lipomas, angiofibromas, collagenomas, and meningiomas. MEN-4 is very rare and has been cha...
متن کاملPositive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene
BACKGROUND Multiple endocrine neoplasia (MEN) type 2 is an autosomal dominant cancer syndrome associated with the development of thyroid cancer and tumors or hyperplasia in other endocrine organs. It is caused by mutations in the RET gene and can be phenotypically classified into MEN types 2A and 2B. MEN2B is often sporadic resulting from a spontaneous mutation, M981T. A positive paternal germl...
متن کاملMultiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype.
BACKGROUND Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant hereditary disorder associated with the development of endocrine tumors due to reduced expression of the tumor suppressor protein menin. Recent studies indicate a general role of menin in carcinogenesis, affecting the prevalence and clinical course of common non-endocrine tumors such as breast cancer, hepatocellular ...
متن کاملMultiple endocrine neoplasia type I.
An adult woman 43 years old, with Multiple Endocrine Neoplasia type 2A (MEN2A). Clinical diagnosis of MEN2A was made based on the chief complaints of abdominal pain and a lump in the front left side area of neck accompanied with weight loss, from laboratory examination revealed an increased level of plasma levels of calcitonin levels with the result of 6359 pg/ml and 24 hours metanephrine urine...
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...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2007
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2006-2843