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MEN2Multiple Endocrine Neoplasia Type 2
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A pediatric PHEO can be included in one of the following five cancer syndromes: VHL, MEN2, NF1, and those associated with PHD1/2 and HIF2A mutations.
Hereditary conditions associated include MEN2, von Hippel-Lindau, neurofibromatosis type 1 and familial paraganglioma phaeochromocytoma syndromes with mutations identified in at least six distinct genes (RET, NF1, VHL, SDHB, SDHC and SDHD).
It is contraindicated in people with a personal or family history of medullary thyroid cancer or those with Multiple Endocrine Neoplasia syndrome type 2 (MEN2).
Genetic syndromes associated with PHEO are multiple endocrine neoplasia type II (MEN2), Neurofibromatosis Type I (NF1), and von Hippel Lindau disease (VHL) (Goldstein 1999).
In 1961, Sipple described the association between MTC and multiple endocrine neoplasia (MEN2) type 2 syndromes.2 MTC accounts 5-10% of thyroid cancers presently.
Pheochromocytomas can be associated with multiple endocrine neoplasias (MEN2), Von Hippel-Lindau Disease (VHL) (Figure 10), Von Recklinghausen neurofibromatosis (NF1) and nonsyndromic familial pheochromocytoma.
Both types of tumors are associated with conditions that are inherited in an autosomally dominant manner, such as: multiple endocrine neoplasia type 2 (MEN2), [2] which is due to a mutation in the RET [3] (ret proto-oncogene) protooncogene; von Hippel-Lindau disease (VHL), which is due to a mutation in the VHL (von Hippel-Lindau tumor suppressor) gene; neurofibromatosis type 1 (NF1), caused by mutation in the NF1 (neurofibromin 1) gene; and mutations in succinate dehydrogenase (SDH) subunits B, C, and D, which are encoded by the SDHB [succinate dehydrogenase complex, subunit B, iron sulfur (Ip)], SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa), and SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) genes.
Multiple endocrine neoplasia type 2 (MEN2) syndromes are autosomally dominant clinical associations characterised by a number of tumours, including medullary thyroid carcinoma (MTC), phaeochromocytoma, thyroid C-cell hyperplasia (CCH), parathyroid tumours (MEN2A) and ganglioneuroma of the gastrointestinal tract (MEN2B).
While individuals with MEN2 with the RET mutation (and family members with the mutation) may undergo prophylactic thyroidectomy given the risk of medullary carcinoma of the thyroid and individuals with familial adenomatous polyposis may undergo prophylactic colectomy given the risk of colon cancer, genetic testing for Huntington's disease does not lead to treatment options.
T: xiang3 dao4 ta1 mu4qian2 de shen1cai2 zheng4hao3 neng2 tong1 guo4 na3 shan4 xiao3 think 3sg in front of eyes ASSOC size right can go through that CL little men2, ke3yi3 jin4ru4 na3 ke3ai4 de hua1yuan2, ta1 xi3 xing2 yu2 se4.
Among the many PPGL susceptibility genes, RET is a well-known protooncogene, germline mutations of which cause multiple endocrine neoplasia type 2 (MEN2), which is characterized by medullary thyroid carcinoma (MTC), PCC, and hyperparathyroidism [7,8].