[Follicular cell (papillary and follicular) thyroid carcinoma, genetic inheritance, and molecular diagnostic markers].

OBJECTIVE: To determine the genetic forms of follicular cell thyroid carcinoma (FCTC) (papillary and follicular thyroid carcinoma (PTC and FTC)), to identify criteria to individually predict the development of the same disease for relatives, and to assess the role of molecular markers in the diagnosis, prognosis, and treatment of this disease. SUBJECTS AND METHODS: One hundred and ninety adult patients aged 20 to 84 years with histologically verified PTC and FTC and 20 children (12 patients with PTC and 8 with benign thyroid tumors) aged 2 to 16 years were examined. To assess the role of the BRAF gene as a molecular marker for thyroid carcinoma, DNA was isolated from the thyroid tumor tissue of 29 patients, which had been obtained by fine-needle aspiration biopsy (FNAB) and scraping and swabbing the cytological specimen previously showing an area containing tumor cells. A BRAF c.1799T>A (p.V600E) mutation in the FNAB specimens was tested by allele-specific ligation, followed by PCR amplification. RESULTS: The examinees' families were found to have a segregation of benign thyroid tumor and nontumor diseases (13.6%). Neoplasias of different sites were observed in 15% of the patients' relatives. Multiple primary tumors were detected in 6.1% of the patients and in 25% of the examined children (3/12). PTC was ascertained to accumulate as two clinical forms in the families. One form belongs to familial PTC (FPTC) in which two or three generations of relatives in the family are afflicted by only PTC and have a more severe phenotype of the disease. The other includes an association of FPTC with papillary kidney cancer. Furthermore, FPTC and PTC may be a component of multitumor syndromes, such as multiple endocrine neoplasia type 1, Cowden syndrome, and familial adenomatous polyposis. The familial hereditary forms of FCTC were generally revealed in 4.2% of the patients. BRAF v600E mutations were found in only 3 patients with Stages II and III PTC and were not in all the 12 children with PTC. CONCLUSION: The found clinical manifestation of the hereditary forms of FCTC permits the identification of people at high risk for this disease. No correlation between somatic BRAF mutations with a less favorable course in PTC can be noticed because there are few observations. Analysis of published data on the role of molecular markers in FCTC has shown that the existing specific somatic changes complement information in the differential cytological diagnosis when examining FNAB specimens.

[Prognistic value of a study of the expression of argyrophilic nucleolar organizer region associated proteins in case of papillary thyroid cancer].

The prognosis in papillary thyroid cancer (PTC) is usually good. Ten-year survival can be seen in 90-98% of patients. Immunohistochemical study (antigen K-67) ascertained that a female patient with PTC had a low number of proliferating cells, which is usually seen in the favorable course of the disease. However, in the presented case, PTC was highly aggressive and showed a significant invasive growth, provided regional and distant metastases, rapidly progressed and, despite the performed surgical treatment, the patient died due to disease progression 3 months after surgery. This discrepancy between the number of proliferating cells and the aggressive course of PTC should be explained by the high expression of argyrophilic nucleolar organizer region associated proteins nucleofozmin and nucleolin, detected by immunohistochemical study, which is known to cause an increase in the rate of a mitotic cycle rate and to promote intercellular adhesion and enhancement of invasive growth and metastatic spread. Various factors involved in the regulation of proliferation of cells and their capacity for invasion and metastasis should be studied to make the most objective estimation of the degree of malignancy of a tumor and its prognosis.

[A familial form of medullary carcinoma of the thyroid gland]. / Semeinaia forma medulliarnogo raka shchitovidnoi zhelezy.

A case of a family form of medullary thyroid cancer is reported. Histological, immunohistochemical and ultrastructural data are presented and problems of etiology, pathogenesis and diagnosis are discussed.

[Analysis of mutations in the RET proto-oncogene in patients with medullary thyroid tumor]. / Analiz mutatsii v protoonkogene RET u bol'nykh s medulliarnym rakom shchitovidnoi zhelezy.

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.

[Autofluorescence diagnosis of malignant tumors of the head and neck]. / Autofliuorestsentnaia diagnostika zlokachestvennykh opukholei golovy i shei.

A new method for diagnosing human malignant tumors is dealt with, which is based on fluorescence of malignant neoplasms and their adjacent normal tissue. To measure the fluorescence spectra, a fiber optic system and a multi-channel optic spectral analyser have been designed. While analysing the resultant spectra, a greater fluorescence excess was observed in the red wave band in the tumors than in normal tissue. Further investigations are required in order to use the method in question in clinical diagnosis.

[The importance of the surgical treatment method in cancer of the oral mucosa with the primary tumor 4 cm in size and larger]. / Znachenie khirurgicheskogo metoda lecheniia raka slizistoi obolochki polosti rta pri pervichnoi opukholi razmerom 4 cm i bolee.

The authors analyze the results of surgical treatment of patients with local disseminated squamous-cell carcinoma of the buccal mucosa. The data on the survival rate of patients treated with different surgical methods are presented and variants of combined operations described.