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The journal «ONCOSURGERY» 2013, Vol.5, No 1

Molecular genetic diagnosis of thyroid cancer

Abramov AA1,2, Belokhvostov AS1,2, Golubtsov AK3, Goryunkov AG3, Reshetov IV3, Krekhno OP3

1) Research Center for medical care for children department of health,
2) Federal Research Center of pediatric hematology, oncology, and immunology,
3) PA Herzen Moscow cancer research institute,
Moscow, Russia
Contact: Goryunkov Aleksey Grigoryevich, e-mail:

The results of molecular genetic studies in patients with various forms of thyroid cancer are presented.

Purpose. To analyze mutations in the hot spots of gene B-raf and K-ras, as well as mutations in exons 5-8 of the p53 gene in biological samples of patients with thyroid cancer to assess the possibilities of differential diagnosis.

Materials and Methods. Tumor and normal tissue samples, as well as blood plasma and saliva of patients with thyroid cancer were evaluated in the study.

Forty five patients were analyzed, 35 of them with papillary thyroid cancer, 3 with follicular thyroid cancer, 4 with medullary thyroid cancer, and 3 with adenoma of the thyroid gland. For genetic variation analysis in the data samples SSCP-electrophoresis and sequencing of gene fragments B-raf and K-ras, and p53 were used.

Results. One of the mutations in test panel of genes in samples of surgical specimens occurred with papillary cancer in 19 cases out of 27 (70%), mutation most likely occurred in 15th exon of the gene B-raf (51%) and 7th exon of the gene p53 (34%). However mutation in the p53 gene was hereditary in 3 cases.

Conclusion. The molecular-genetic study allows us to differentiate tumors of the thyroid gland in the early stages, identifying early signs of malignant transformation.

The possibility of performing molecular genetic analysis of mutations in oncogenes B-raf and K-Ras, and exons 5–8th of the p53 gene in plasma and saliva is shown.

KEY WORDS: thyroid cancer, gen, mutation, diagnosis, B-raf, K-ras, p53.


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