Endocrine Abstracts

To analyze the data of relatives of first-degree patients operated on for medullary thyroid cancer (MTC), we analyzed the anamnestic data of the database of patients with MTC, formed on the basis of the cancer registry of the Republic of Belarus and medical records of the Republican Thyroid Tumor Center. Further examination of relatives is also performed on the basis of the Republican Center for Thyroid Tumors.

The aim: of the study was to create a database of first-degree relatives of patients operated on for medullary thyroid cancer with identified mutations in the RET proto-oncogene.

Materials and methods: An electronic database was created in the Excel far entering the results of demographic, clinical, morphological, instrumental, laboratory and molecular genetic studies. Rows correspond to each of the study subjects. The columns correspond to the features indicated in the description of the study design.

Results and discussion: The group included 76 (30 men and 47 women, the median age was 43 years) first-degree relatives of patients operated on for MTC, mutations in the RET proto-oncogene were detected in 35 people. The distribution of participants by region varied from 20.0% to 35.0%. A survey, collecting an anamnesis, a clinical examination data with measurement of blood pressure, ultrasound of the thyroid gland of regional lymph nodes was performed. Nodular pathology of the thyroid gland was detected in 58 patients, hyperplasia of the cervical lymph nodes in 62 patients, a combination of nodular goiter and cervical lymphadenopathy was registered in 49 people. Puncture-aspiration biopsy of the thyroid gland (and LU) was performed in 45 patients; the results were benign. In individuals with nodular pathology of uncertain malignancy potential were used calcitonin stimulation test. Taking into account the hereditary factor and with elevated levels of calcitonin, preventive thyroidectomy was performed in 5 cases. Data for hyperplasia of the parathyroid glands were detected in 7 patients, further additional examination was carried out in case of suspected diagnosis of hyperparathyroidism. Computed tomography was performed in 9 patients; data for tumor pathology were not established.

Conclusions: An increase in the level of basal calcitonin and parathyroid hormone was noted in relatives of first-degree patients operated on for MTC with a mutation in the RET proto-oncogene, but without statistical significance of differences (P=0.067 and P0.120, respectively). Currently, further analysis and systematization of the results of examinations is being carried out, including the results of molecular genetic testing.