Next-Generation Sequencing

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Presentation transcript:

Next-Generation Sequencing Snehal B. Patel, Wendy Kadi, Ann E. Walts, Alberto M. Marchevsky, Andy Pao, Angela Aguiluz, Tudor Mudalige, Zhenqui Liu, Nan Deng, Jean Lopategui The Journal of Molecular Diagnostics Volume 19, Issue 6, Pages 870-880 (November 2017) DOI: 10.1016/j.jmoldx.2017.07.006 Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Mutation frequencies in the current study are comparable to those in major databases. Mutations were detected in 7 of the 50 genes interrogated by the AmpliSeq Cancer Hotspot Panel version 2. COSMIC, Catalog of Somatic Mutations in Cancer; TCGA, The Cancer Genome Atlas. The Journal of Molecular Diagnostics 2017 19, 870-880DOI: (10.1016/j.jmoldx.2017.07.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 High mutational concordance in primary lung cancers and their paired distant organ metastases. A: Pie chart shows proportion of tumor pairs with identical, partially overlapping, or completely different mutations in their paired primary tumors and distant metastases. B: Pie chart shows proportion of mutations that were concordant or discordant between tumor pairs. C: Co-mutation plot shows driver mutations in primary and metastatic tumors. Because driver mutations were mutually exclusive, they were lumped together in the same co-mutation plot. D: Co-mutation plot shows TP53 mutations in primary and metastatic tumors. n = 8 (A); n = 24 (B). The Journal of Molecular Diagnostics 2017 19, 870-880DOI: (10.1016/j.jmoldx.2017.07.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Next-generation sequencing (NGS) predicts intrapulmonary metastasis (identical mutations). Differently colored tumors indicate different histologic appearance by comprehensive histologic evaluation, whereas identically colored tumors indicate similar histologic appearance. American Joint Committee on Cancer (AJCC) prediction incorporates histologic features and lymph nodes status. Clipart images of the lungs and trachea are used with permission from the Florida Center for Instructional Technology. The Journal of Molecular Diagnostics 2017 19, 870-880DOI: (10.1016/j.jmoldx.2017.07.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 4 Next-generation sequencing (NGS) predicts independent primary tumors (discordant mutations). Differently colored tumors indicate different histologic appearance by comprehensive histologic evaluation, whereas identically colored tumors indicate similar histologic appearance. The American Joint Committee on Cancer (AJCC) prediction incorporates histologic features and lymph nodes status. Clipart images of the lungs and trachea are used with permission from the Florida Center for Instructional Technology. The Journal of Molecular Diagnostics 2017 19, 870-880DOI: (10.1016/j.jmoldx.2017.07.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 5 Next-generation sequencing is predictive of patient outcomes. Kaplan-Meier survival curves for patients with distant metastases (dMETs) and multiple primary lung tumors (mPTs) with identical [predicted intrapulmonary metastases (pMETs)] or completely discordant (predicted independent primary lung tumors) mutations. Hash marks indicated censored data. The Journal of Molecular Diagnostics 2017 19, 870-880DOI: (10.1016/j.jmoldx.2017.07.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions