Related Experiment Video
Updated: Aug 7, 2026
An Orthotopic Mouse Model of Anaplastic Thyroid Carcinoma
Published on: April 17, 2013
[Analysis of mutations in the RET proto-oncogene in patients with medullary thyroid tumor]
F A Amosenko1, V Zh Brzhezovskiĭ, L N Liubchenko
1Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia. amossenko@medgen.ru
Abstract:
The spectrum of mutations of the RET protooncogene was analyzed in Russian patients with inherited or sporadic medullary thyroid carcinoma (MTC). Four RET exons (11, 13, 15, and 16) were subjected to molecular analysis, and mutations were revealed and identified in 47.4% (9/19) patients with sporadic MTC. In total, six mutations (including three new ones) were observed. The most common mutation affected codon 918 to cause substitution of methionine with threonine and accounted for 31.6% alleles. Analysis of exons 11 and 16 revealed four mutations in patients with inherited multiple endocrine neoplasia type 2 (MEN 2). Mutations were found in each patient. Thyroidectomy was performed in four asymptomatic carriers of RET mutations from three MET 2A families (in two families, affected relatives had bilateral pheochromocytoma). In two patients, analysis of the surgery material revealed MTC microfoci in both lobes of the thyroid gland. The results provide the ground for constructing a bank of genetic information on Russian MTC patients with the clinically verified diagnosis.
Insights
RET protooncogene mutations are common in Russian medullary thyroid carcinoma (MTC) patients, with new mutations identified. Genetic screening aids in early detection and management of MTC and related endocrine disorders.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor often associated with RET protooncogene mutations.
- Understanding the mutation spectrum in specific populations is crucial for diagnosis and management.
Purpose of the Study:
- To analyze the spectrum of RET protooncogene mutations in Russian patients with inherited or sporadic MTC.
- To identify novel RET mutations and assess their prevalence.
Main Methods:
- Molecular analysis of four RET protooncogene exons (11, 13, 15, and 16) in 19 sporadic MTC patients.
- Analysis of RET mutations in patients with inherited multiple endocrine neoplasia type 2 (MEN 2).
Main Results:
- Mutations were identified in 47.4% of sporadic MTC patients, with six distinct mutations found, including three novel ones.
- The most frequent mutation was at codon 918 (M918T), present in 31.6% of alleles.
- Four RET mutations were found in all analyzed patients with inherited MEN 2A, including asymptomatic carriers who underwent prophylactic thyroidectomy.
Conclusions:
- RET protooncogene mutations are prevalent in Russian MTC patients, necessitating genetic screening.
- Identification of novel mutations expands the known RET mutation landscape.
- Genetic analysis supports early detection and preventative strategies for MTC and associated MEN 2A conditions.
Related Concept Videos
01:33Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...