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

Overview of attention for article published in BMC Cancer, January 2016
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Genetic heterogeneity of actionable genes between primary and metastatic tumor in lung adenocarcinoma
Published in
BMC Cancer, January 2016
DOI 10.1186/s12885-016-2049-z
Pubmed ID

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


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. 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. 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. 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.

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 5 22%
Student > Ph. D. Student 3 13%
Student > Doctoral Student 3 13%
Student > Master 2 9%
Researcher 2 9%
Other 2 9%
Unknown 6 26%
Readers by discipline Count As %
Medicine and Dentistry 6 26%
Biochemistry, Genetics and Molecular Biology 4 17%
Agricultural and Biological Sciences 2 9%
Mathematics 2 9%
Immunology and Microbiology 1 4%
Other 2 9%
Unknown 6 26%