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KMID : 0939920190510010211
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대한암학회지
2019 Volume.51 No. 1 p.211 ~ p.222
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Landscape of Actionable Genetic Alterations Profiled from 1,071 Tumor Samples in Korean Cancer Patients
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Lee Se-Hoon
Lee Bo-Ram
Shim Joon-Ho
Lee Kwang-Woo
Yun Jae-Won
Kim Sook-Young
Kim Tae-You
Kim Yeul-Hong
Ko Young-Hyeh
Chung Hyun-Cheol
Yu Chang-Sik
Lee Jee-Yun
Rha Sun-Young
Kim Tae-Won
Jung Kyung-Hae
Im Seock-Ah
Moon Hyeong-Gon
Cho Suk-Ki
Kang Jin-Hyoung
Kim Ji-Hun
Kim Sang-Kyum
Ryu Han-Suk
Ha Sang-Yun
Kim Jong-Il
Chung Yeun-Jun
Kim Cheol-Min
Kim Hyung-Lae
Park Woong-Yang
Noh Dong-Young
Park Keun-Chil
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Abstract
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Purpose: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data.
Materials and Methods: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared.
Results: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration.
Conclusion: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
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KEYWORD
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Actionable genetic alteration, Precision medicine, Next generation sequencing, Targeted panel sequencing, Cancer genomics
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