Endocrine Abstracts

Mutations in the RET protooncogene cause familial cases of medullary thyroid cancer, which in some cases coexists with pheochromocytoma and primary hyperparathyreoidism as the MEN2A syndrome.Aim of the study: Evaluation of frequency of pheochromocytomas and their clinical course in the RET protooncogene mutations carriers.Material: One hundred and seventy nine patients, among them 109 probands and 70 family members in...

Proto-oncogene RET encodes a receptor tyrosine kinase. Germline point mutations of RET result in development of multiple endocrine neoplasia, type 2 (MEN 2). MEN 2 phenotype is correlated with intragene localization of germline mutation. The disease has three main subtypes, MEN 2A, MEN 2B and FMTC. Each of subtypes is associated with high risk of medullary thyroid cancer, MEN 2A and MEN 2B with 50% risk of pheochromocytoma, MEN 2A with 15–30% risk of primary hyperparathyr...

Background: Multiple endocrine neoplasia syndrome type 2 (MEN2) is a rare disease characterised by inherence in each patient medullary thyroid carcinoma (MTC), pheochromocytoma and in type MEN 2a primary hyperparathyroidism, in type MEN2b marfanoid habitus and neurofibromas. Mutation in RET proto-oncogene at chromosome 10 is a molecular cause of MEN2 syndrome.Methods: Eighteeen patients with MEN2 syndrome were enrolled: (10 women and 8 men) mean age 22&#...

Tumors derived from chromaffine tissue include pheochromocytomas (tumors located in adrenal medulla) and paragangliomas (extraadrenal tumors). These tumors are in 20–25% inherited. Paragangliomas are even rarer and are presented either as familial disease or pheochromocytoma-paraganglioma syndrome (PPS). The mutations in SDH genes (SDHB, SDHD) are suspected for causing the syndrome.The aim of present study is to look for germline mutat...

Aim of the study: Medullary thyroid cancer (MTC) occurs as hereditary and sporadic form. Hereditary type is a consequence of RET proto-oncogene germline mutations also somatic RET mutations are detectable in sporadic MTC tumors. There is a significant relation between site of mutation and the cancer phenotype as well as a clinical course of the MEN 2 Syndrome as a consequence of the different transforming potential of the RET gene mutations. The aim ...

There are two types of neoplasms derived from chromaffine tissue: pheochromocytomas (tumors of adrenal core) and paragangliomas (tumors located extraadrenally). Majority of these tumors are sporadic, although according to literature, when DNA analysis is carried out, hereditary disease can be diagnosed in about 25% of patients: Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), von Hippel-Lindau Syndrome (VHL), Pheochromocytoma/Paraganglioma Syndrome (PPS) and neurofibroma...

Germinal mutations in protooncogene RET are associated with the inherited medullary thyroid carcinoma (MTC) which occurs as the sole manifestation of disease (FMTC) or, more frequently, as the part of multiple endocrine neoplasia (MEN2). The contribution of RET polymorphism to the occurrence of apparent sporadic MTCs is controversial. In our previous study we have found out that the frequency of RET 769 CTT>CTG polymorphism in patients with MTCs is not significantly higher...

Introduction: Germline mutations of RET oncogene result in development of multiple endocrine neoplasia type 2 (MEN 2). There is a strong correlation between type of the RET sequence changes and the aggressiveness of main syndrome feature, medullary thyroid carcinoma (MTC), and the incidence of remaining manifestations, mainly pheochromocytoma (PHEO). For many of the RET germline mutations, the clinical risk have been precisely defined, but there are ...

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...