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

BMC Cancer
Eun Young KimYoon Soo Chang

Abstract

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 met...Continue Reading

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Citations

Sep 14, 2016·Seminars in Cell & Developmental Biology·Mengjia QianYunfeng Cheng
Feb 6, 2017·Expert Review of Respiratory Medicine·Antonio RossiMassimo Di Maio
Jun 17, 2019·Current Treatment Options in Oncology·Katherine A Scilla, Christian Rolfo
Mar 16, 2021·Frontiers in Endocrinology·Cristiane J Gomes-LimaKenneth D Burman

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Methods Mentioned

BETA
genotyping
biopsy
Chip
PCR
chips
surgical resection

Software Mentioned

Ion Torrent
SPSS Statistics
tmap
Ion Torrent Variant Caller ( ITVC )
Ion Torrent Suite

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