Ученые обнаружили способ поиска редких опухолей головы и шеи по мутациям в генах

Scientists from the V.A. Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences and colleagues conducted a genetic analysis of paragangliomas of the head and neck to identify mutations specific to them.

The authors examined 152 tumor samples from 140 patients collected together with collaborators from the A.V. Vishnevsky National Medical Research Center for Surgery of the Ministry of Health. The biologists extracted DNA from the tumor cells and decoded its sequence. Then, using bioinformatic programs, they identified mutant genes, determined their functions and assessed their possible participation in the cell's transformation from healthy to malignant. In 30% of the tumors studied, the authors found 53 potentially harmful mutations in 36 different genes.

"The association of most of the detected mutations with head and neck paragangliomas was not previously known. The identified genetic variants may have negative effects on protein structure and function. Predicted harmful effects of these mutations suggest that they may be involved in oncogenesis", - said the project leader, candidate of biological sciences, leading researcher at the Institute of Molecular Biology Anastasia Snezhkina.

According to the authors, most of the mutant genes are involved in the processes of metabolism and energy supply of the cell, as well as in known signaling pathways often associated with cancer. The data obtained will be useful in the diagnosis and development of new methods of treatment of these neoplasms. Based on this information, the scientists aim to develop molecular targeted therapies for these tumors - an approach that uses a drug that targets strictly the affected cells.

Read more in an exclusive Izvestia piece:

Gene staging: rare head and neck tumors will be easier to detect