نتایج جستجو برای: men2b
تعداد نتایج: 80 فیلتر نتایج به سال:
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...
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with c...
The RET proto-oncogene encodes a receptor tyrosine kinase whose dysfunction plays a crucial role in the development of several neural crest disorders. Distinct activating RET mutations cause Multiple Endocrine Neoplasia type 2A (MEN2A), type 2B (MEN2B) and Familial Medullary Thyroid Carcinoma (FMTC). Despite clear correlations between the mutations found in these cancer syndromes and their phen...
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant tumour syndrome caused by germline activating mutations of the RET proto-oncogene. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient or family. Based on the phenotype three distinct clinical forms ...
The susceptibility gene for hereditary Medullary Thyroid Carcinoma (MTC) is the RET proto-oncogene. The aim of this study was to evaluate the prevalence of common germline RET mutations in exons 10 and 11 among Iranian MTC patients. Fifty-seven non-related MTC patients were examined in this study (Females: Males =1.2:1.0, Mean age = 40.0 +/- 11.5 years) and the existence of mutations was assess...
مقدمه: سرطان تیرویید شایع‌ترین بدخیمی سیستم غدد درون‌ریز است که به چهار نوع پاپیلاری، فولیکولار، مدولاری و آناپلاستیک تقسیم میگردد. سرطان مدولاری تیرویید (MTC) از بدخیم‌ترین انواع سرطان تیرویید است و تا 10 درصد کـل انواع این بیماری را شامل میشود. الگوی توارث MTC به صورت اتوزوم غالب است و رخــداد جهش‌های افـزایش عملکــرد پروتوآنکــوژن RET در ایجاد آن به خوبــی شنــاخته شــده است. MTC به ...
OBJECTIVE This retrospective multicenter study, centrally conducted and supported by the Society of Endocrinology and Metabolism of Turkey, aimed to evaluate the impact of free RET proto-oncogene testing in medullary thyroid carcinoma (MTC) patients. Surgical timing, adequacy of the treatment, and frequency of prophylactic thyroidectomy (PTx) in mutation carriers were also assessed. METHODS G...
The aim of this study was to investigate whether younger age at surgery is associated with the increased incidence of postoperative complications after prophylactic thyroidectomy in pediatric patients with multiple endocrine neoplasia (MEN) 2. The shift toward earlier thyroidectomy has resulted in significantly less medullary thyroid carcinoma (MTC)-related morbidity and mortality. However, ver...
BACKGROUND Surgical treatment of hereditary pheochromocytoma remains controversial because of the need for lifelong corticosteroid therapy and the risk of Addisonian crisis associated with bilateral total adrenalectomy. We examined our large series of patients with hereditary pheochromocytoma to evaluate postsurgical outcomes, particularly in those who underwent cortical-sparing adrenalectomy. ...
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