13P Evaluating targeted next-generation sequencing (NGS) assays and reference materials for NTRK fusion detection

Abstract

lung cancer. Tumor biopsy specimens and blood plasma served as the material for the study when tissue biopsy was not possible. The study of diagnostic material was performed by PCR analysis for the main mutations ex19del, L858R and rare mutations L861Q, G719X, ex20ins and S768I.Results: A total of 1,135 samples were tested. EGFR mutation was detected in 195 (17.2%) cases. Due to analyzing various mutations in the EGFR gene, ex19del was detected in 97 patients (49.7%), L858R in 83 (42.6%), L861Q in 3 (1.5%), G719X in 4 (2.1%), ex20ins in 1 (0.5%). The S768I mutation was determined in 2 cases (1.03%) and in both cases, together with the L858R mutation. Also, an additional 3 patients showed a combination of ex19del + T790M, L858R + G719X and L858R + L861Q mutations. Among patients who never received treatment, 2 (1.03%) showed a T790M mutation.Conclusions: From the obtained results of the mutational landscape of EGFR mutations in lung adenocarcinoma, it follows that the occurrence of somatic mutations is due to the territorial feature of the population and the peculiarity of the effect of carcinogenic factors. By the results, the frequency of detection of mutations in the EGFR gene for the region under consideration is characterized by territorial features.

Recommended testing algorithms for NTRK gene fusions in pediatric and selected adult cancers: Consensus of a Singapore Task Force

“…This two‐step approach of IHC screening prior to molecular sequencing is also in line with international guidelines, such as those published by ESMO 38,39 . Although FISH and RT‐PCR are feasible tests for determining NTRK gene fusions, NGS, specifically the RNA‐based NGS, remains the preferred and most dependable method whenever it is available 40 …”