ABSTRACT
IMMUNO-ONCOLOGIC MONOTHERAPY FOR NSCLC: 5-year survival data from the KEYNOTE-024 trial confirm the sustained efficacy of immuno-oncologic monotherapy in patients with NSCLC with high PD-L1 expression (≥â50â%). DUAL IMMUNOTHERAPY IN COMBINATION WITH CHEMOTHERAPY AS FIRST-LINE THERAPY FOR NSCLC: Nivolumab plus impilimumab in combination with 2 cycles of platinum-containing chemotherapy improves survival in NSCLC patients. NOVEL TARGETS AND TREATMENT OPTIONS: Entrectinib and larotrectinib with efficacy in NTRK fusion-positive NSCLC. Selpercatinib and pralsetinib with efficacy in RET fusion-positive NSCLC. Mobocertinib with efficacy in EGFRex20ins mutation of the EGFR gene. Sotorasib with efficacy in kRAS-G12C mutation of NSCLC. NATIONAL NETWORK GENOMIC MEDICINE LUNG CANCER (NNGM): The nationwide network nNGM provides NSCLC patients with access to state-of-the-art molecular diagnostics and the latest treatment options.
Subject(s)
Antineoplastic Agents/therapeutic use , Genomic Medicine/methods , Lung Neoplasms , Carcinoma, Non-Small-Cell Lung/drug therapy , Carcinoma, Non-Small-Cell Lung/genetics , Carcinoma, Non-Small-Cell Lung/mortality , Humans , Lung Neoplasms/drug therapy , Lung Neoplasms/genetics , Lung Neoplasms/mortality , Pyrazoles/therapeutic use , Pyridines/therapeutic use , Pyrimidines/therapeutic useABSTRACT
To maximize the potential of genomics in medicine, it is essential to establish databases of genomic variants for ethno-geographic groups that can be used for filtering and prioritizing candidate pathogenic variants. Populations with non-European ancestry are poorly represented among current genomic variant databases. Here, we report the first high-density survey of genomic variants for the Thai population, the Thai Reference Exome (T-REx) variant database. T-REx comprises exome sequencing data of 1092 unrelated Thai individuals. The targeted exome regions common among four capture platforms cover 30.04 Mbp on autosomes and chromosome X. 345 681 short variants (18.27% of which are novel) and 34 907 copy number variations were found. Principal component analysis on 38 469 single nucleotide variants present worldwide showed that the Thai population is most genetically similar to East and Southeast Asian populations. Moreover, unsupervised clustering revealed six Thai subpopulations consistent with the evidence of gene flow from neighboring populations. The prevalence of common pathogenic variants in T-REx was investigated in detail, which revealed subpopulation-specific patterns, in particular variants associated with erythrocyte disorders such as the HbE variant in HBB and the Viangchan variant in G6PD. T-REx serves as a pivotal addition to the current databases for genomic medicine.
