THE ROLE OF PRECISION MEDICINE IN THE OPTIMIZATION OF THE SYSTEMIC TREATMENT FOR ADVANCED NEOPLASMS

Introduction: Next Generation Sequence (NGS) is an interesting platform which can help clinicians to choose wisely the best treatment for cancer patients according to the presented “drugable mutations.” Objectives: our primary end-point was to analyze the use of NGS tool (Foundation One CDX) to choose the best systemic treatment for advanced cancer patients; our secondary end-point was to understand whether or not Foundation One CDx can change the practice outcomes when compared to standard guidelines approaches. Methods: we analyze retrospectively our patients cohort whom were submitted to the Foundation One CDx test. All issues were carried out according to the good clinical practice guidelines. Statistical analysis was performed using SPSS version 22.0, Chicago, ILL, USA. Results: The performed assay interrogated 324 genes as well as introns of 36 genes involved in rearrangements. The assay was updated periodically to be reflected new knowledge about cancer biology. Microsatellite status was stable and tumor mutational burden was low and intermediate in our analyzed patients with vagina squamous cell carcinoma and glioblastoma. The main genomic findings were CCND1 amplification FGFR1 amplification, MYC amplification – equivocal, C11orf30 (EMSY) amplification, FGF19 amplification, FGF3 amplification, FGF4 amplification, MLL2 splice site 15784+1G > C, Q364, NSD3 (WHSC1L1) amplification, TERC amplification, TP53 P278S, EGFR amplification, EGFRvIII, TSC1 rearrangement exon 6, CDKN2A/B loss, DIS3 D238N, TERT promoter -146C > T. Therapies findings with clinical benefits were Abemaciclib, Palbociclib, Ribociclib, Pazopanib, Ponatinib for vagina squamous cell carcinoma; and Afatinib, Cetuximab, Dacomitinib, Erlotinib, Gefitinib, Lapatinib, Osimertinib, Panitumumab, Everolimus, Temsirolimus for glioblastoma. Conclusions: NGS analysis technique is a useful tool to improve the clinical practice when it is ordered in anticipation for patients with good performance status due to its possibility to provide a broader therapeutically options according to the subjects´ pharmacogenomics.