Molecular genetic portrait of non-small cell lung cancer in Tambov region: regional experience

80–90%. The identification of gene mutation profile of non-small cell cancer allows to make a molecular portrait, which plays the crucial role in choosing the targeted therapy with tyrosine kinase inhibitors.

The aim is to study the frequency and spectrum of activating mutations in non-small cell lung cancer in Tambov region.

The study of the presence of mutations and the main driver gene mutation profile: EGFR, ALK, BRAF, ROS1 and PDL-1 using sections of paraffin-embedded after the surgery and biopsy in 238 patients with the help of polymerase chain reaction and immunohistochemistry. The age of patients ranged from 28 years to 82 years, with a mean age of 60.3 years.

Results. Adenocarcinoma was detected in 80.3% of patients, and squamous cell variant – in 19.7% of cases. The frequency of the driver gene activating mutations in non-small cell lung cancer was 29%, this index exceeded the frequency in the European population. Statistically significant predominance of female (63.6%) vs male (36.4%) was achieved. The mutation frequency increases with age. In this case, EGFR mutations were observed more often – 22.3%. This index was slightly higher than in the European population. Statistically significant predominance of female was achieved. The highest frequency of mutations was demonstrated in patients 65–70 years of age (24%). The deletion of exon 19 and single-nucleotide replacement L858R of exon 21 were observed in 54.5% and 45.5% of cases, respectively. The mutation of exon 19 was more often detected in male, at the same time the mutations of exons 19 and 21 in female were detected in almost the same frequency. Maximum frequency mutation rate (77.7%) in the EGFR gene was detected free from metastases to the regional lymph nodes. ALK mutations were found in 14.6% of patients, this index was slightly higher than the European level.

PDL-1 expression is found in 40% male patients.

Conclusion. The results of the study revealed some features of the profile of activating mutations in non-small cell lung cancer in the region. This data should be taken into account on planning and applying targeted therapy.