Genotyping and Genomic Profiling of Non– Small-Cell Lung Cancer: Implications for Current and Future Therapies Tianhong Li, Hsing-Jien Kung, Philip C.

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Genotyping and Genomic Profiling of Non– Small-Cell Lung Cancer: Implications for Current and Future Therapies Tianhong Li, Hsing-Jien Kung, Philip C. Mack, and David R. Gandara J Clin Oncol VOL 31 MARCH R3. 이선희 /Pf. 정재헌

Non–small-cell lung cancer (NSCLC) One of the most genomically diverse and deranged of all cancers, creating tremendous challenges for both prevention and treatment strategies.

Eberhard, J Clin Oncol 2005

SequenomSNaPshot Advantages Easy operability & interpretation Short turnaround time Generally available at major academic institutions Disadvantages Requirement for the purchase of equipment Vendor’s involvement in modifying and updating the gene list Limited to high-prevalence genetic abnormalities detected in NSCLC Labor intensive 2~3 week turnaround time

HIGH-THROUGHPUT GENOME- WIDE UNBIASED NGS Rapid ways for genome-wide characterization of DNA, mRNA, transcription factor regions, miRNA, chromatin structure, and DNA methylation patterns whole-genome, whole-exome, whole-transcriptome(RNA sequencing), and whole-epigenome analysis 1 week to generate sequencing data and at least 2 weeks for data analysis. It costs approximately $3,500 to $5,000

Challenges in clinical application of genotyping 1.NSCLC is well recognized as diverse based on interpatient & intrapatient tumor heterogeneity. 2.Dynamic change within the cancer genome during the disease course is now being recognized as an additional challenge 3.Both quantity and quality of tumor tissue are critical for all genetic and genomic testing

Challenges in clinical application of genotyping 4.How to analyze the huge amount of genomic data for clinical relevant drug targets and pharmacogenomic variants. 5.Clinical implementation of genotyping and genomic tests in NSCLC demands a close collaboration.

Conclusion Broad-based genotyping approaches will improve clinical outcomes of patients with NSCLC has yet to be proven by rigorous, prospective clinical evaluation. Recent advances in genomic technologies and drug development are making molecular-based and personalized lung cancer therapy no longer just a dream.