Malignant pheochromocytoma in neurofibromatosis; mutation screening of RET proto-oncogene,VHLandSDHgene
نویسندگان
چکیده
منابع مشابه
Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma
UNLABELLED Pheochromocytomas (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest. Mutations in the RET-proto-oncogene are associated with sporadic pheochromocytoma, familial or sporadic medullary thyroid carcinoma (MTC) and multiple endocrine neoplasia type 2. In the past, only few cases of pigmented PCCs, PGLs, and one case of pigmente...
متن کاملRET proto oncogene mutation detection and medullary thyroid carcinoma prevention.
Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%)...
متن کاملRET Proto-Oncogene
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine...
متن کامل[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family].
BACKGROUND AND OBJECTIVES Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum cal...
متن کاملHeterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma.
Mutations in the RET proto-oncogene are associated with the pathogenesis of medullary thyroid carcinoma (MTC). In an attempt to understand this process, we examined microdissected subpopulations from MTC and multiple metastases from these tumors. Approximately 80% of sporadic MTC's had at least one subpopulation with the RET codon 918 mutation, which is a mutation previously detected in sporadi...
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ژورنال
عنوان ژورنال: World Journal of Medical Genetics
سال: 2013
ISSN: 2220-3184
DOI: 10.5496/wjmg.v3.i1.1