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INTEGRATION MOLECULAR TESTING IN DIAGNOSIS, TREATMENT AND PREVENTION OF MEDULLAR THYROID CANCER IN CHILDRENстатья
- Авторы: Kazubskaya T.P., Kozlova V.M., Kondrat’eva T.T., Shishkov R.B., Trofomov Yu I., Amosenko F.A., Brjezovsky V.J., Polaykov V.G.
- Сборник: The 22nd International Charles Heidelberger Symposium on Cancer Research Proceedings of the International Symposium
- Серия: Proceedings of the International Symposium
- Год издания: 2018
- Издательство: Publishing House of Palacký University
- Местоположение издательства: Olomouc, Czech Republic
- Первая страница: 44
- Последняя страница: 45
- Аннотация: Modern molecular genetic technologies in cancer study promotes their introduction into clinical practice, opening up new opportunities in diagnosis, choice of tactics for management and prevention of hereditary forms of malignant tumors in children. Medullar thyroid cancer (MTC) in children occurs either in or non-heritable form, the outcome of disease depends on early diagnosis. The aim is to evaluate the possibilities of practical application of molecular diagnostic in the medical genetic counseling of the medullar thyroid cancer. Design/Methods Information and follow up date from 33 patients with MTC and 47 their family members were collected and studied in NN Blokhin Research Cancer Center. The age of the patients was from 2.5 to 21 years. A total of patients were examined between 1994 and 2016 years. A total of 10 children carriers of RET mutations underwent prophylactic thyroid surgery. MTC was found in six of 10 children (60 per cent) aged 2,5 years or more. Of four children 2 had foci C-cell hyperplasia. For two of them thyroid surgery was prophylactic. The clinical course of disease (familial MEN) for the carrier of RET mutation in codons 620 и 804 was more favorable. According to our observations, the carrier of RET mutation in codon 634 recommended prophylactic thyroid surgery at the age before 5 years, regardless of the calcitonin level. Antenatal diagnosis of the disease with MEN-2A and familial MEN syndromes were carried out. The genetic tests for RET mutations were analyzed on peripheral blood samples from 33 patients and 47 their relatives, and their clinical significance was studied. In this study, six separate exons 10, 11 and 13-16 of the RET gene were analyzed using polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) analyses. Genetic testing of RET mutations helps the early diagnosis and stratifies of the risk developing MTC. The efficacy and safe surgery treatment of MTC depends of the type of mutation. Diagnosis of RET mutations allows genetically dividing the disease in depending of the type of mutation that determines the severity of the course of the disease and the management of patients There was an opportunity to prevent the development of the disease, give a more accurate prognosis of the disease course, informs the timing of thyroidectomy and possibility for patients to plan a family.
- Добавил в систему: Казубская Татьяна Павловна