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Genetic heterogeneity of actionable genes between primary and metastatic tumor in lung adenocarcinoma

 Eun Young Kim  ;  Eun Na Cho  ;  Heae Surng Park  ;  Arum Kim  ;  Ji Young Hong  ;  Seri Lim  ;  Jong Pil Youn  ;  Seung Yong Hwang  ;  Yoon Soo Chang 
 BMC Cancer, Vol.16(27) : 1-9, 2016 
Journal Title
 BMC Cancer 
Issue Date
Adenocarcinoma/genetics* ; Adenocarcinoma/pathology ; Adult ; Aged ; Aged, 80 and over ; Apoptosis Regulatory Proteins/genetics ; Bcl-2-Like Protein 11 ; Disease-Free Survival ; Female ; Genetic Heterogeneity* ; High-Throughput Nucleotide Sequencing ; Humans ; Lung Neoplasms/genetics* ; Lung Neoplasms/pathology ; Lymph Nodes/pathology* ; Lymphatic Metastasis/genetics* ; Lymphatic Metastasis/pathology ; Male ; Membrane Proteins/genetics ; Middle Aged ; Mutation ; Neoplasm Proteins/genetics* ; Proto-Oncogene Proteins/genetics
Genetic heterogeneity ; Mutation ; Next generation sequencing ; Non-small cell lung cancer ; Lung adenocarcinoma
BACKGROUND: Biopsy for lung cancer diagnosis is usually done at a single site. But it is unclear that genetic information at one biopsy site represents that of other lesions and is sufficient for therapeutic decision making. METHODS: Non-synonymous mutations and insertions/deletions of 16 genes containing actionable mutations, and intron 2 deletion polymorphism of Bcl2-like11 were analyzed in 41 primary tumor and metastatic lymph node (L/N) matched, pStage IIA ~ IIIA non-small cell lung cancer (NSCLC) samples using a next generation sequencing based technique. RESULTS: A total of 249 mutations, including 213 non-synonymous mutations, 32 deletions, and four insertions were discovered. There was a higher chance of discovering non-synonymous mutations in the primary tumors than in the metastatic L/N (138 (64.8%) vs. 75 (35.2%)). In the primary tumors, 106 G > A:C > T transitions (76.8%) of 138 non-synonymous mutations were detected, whereas in the metastatic L/N, 44 (58.7%) of 75 were discovered. A total 24 (11.3%) out of 213 non-synonymous mutations were developed in the context of APOBEC signature. Of those, 21 (87.5%) was detected in the primary tumors and 4 (16.7%) was detected in the metastatic L/N. When the mutation profiles between primary tumor and metastatic L/N were compared, 13 (31.7%) of 41 cases showed discrepant mutation profile. There were no statistically significant differences in disease free survival and overall survival between groups showing identical mutation profiles and those with discrepancy between primary and metastatic L/N. CONCLUSIONS: Genetic heterogeneity between the primary and L/N metastatic lesions is not infrequent finding to consider when interpreting genomic data based on the result of one site inspection. A large prospective study may be needed to evaluate the impact of genetic heterogeneity on the clinical outcomes of NSCLC patients.
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
김은영(Kim, Eun Young) ORCID logo https://orcid.org/0000-0002-3281-5744
박혜성(Park, Heae Surng)
장윤수(Chang, Yoon Soo) ORCID logo https://orcid.org/0000-0003-3340-4223
조은나(Cho, Eun Na)
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