PMID- 31726498
OWN - NLM
STAT- MEDLINE
DCOM- 20201221
LR  - 20211204
IS  - 2005-9256 (Electronic)
IS  - 1598-2998 (Print)
IS  - 1598-2998 (Linking)
VI  - 52
IP  - 2
DP  - 2020 Apr
TI  - Detection of Targetable Genetic Alterations in Korean Lung Cancer Patients: A 
      Comparison Study of Single-Gene Assays and Targeted Next-Generation Sequencing.
PG  - 543-551
LID - 10.4143/crt.2019.305 [doi]
AB  - PURPOSE: Epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase 
      (ALK), and ROS proto-oncogene 1 (ROS1) are 'must-test' biomarkers in the 
      molecular diagnostics of advanced-stage lung cancer patients. Although 
      single-gene assays are currently considered the gold standard for these genes, 
      next-generation sequencing (NGS) tests are being introduced to clinical 
      practices. We compared the results of current diagnostics and aimed to suggest 
      timely effective guidance for their clinical use. MATERIALS AND METHODS: Patients 
      with lung cancer who received both conventional single-gene assays and subsequent 
      targeted NGS testing were enrolled, and the results of their tests were compared. 
      RESULTS: A total of 241 patients were enrolled, and the EGFR real-time polymerase 
      chain reaction, ALK fluorescence in situ hybridization (FISH), and ROS1 FISH 
      assays exhibited 92.9%, 99.6%, and 99.5% concordance with the NGS tests, 
      respectively. The discordant cases were mostly false-negatives of the single-gene 
      assays, probably due to technical limitation. Of 158 cases previously designated 
      as wild-type, EGFR, ALK, and ROS1 alterations were identified in 10.1%, 1.9%, and 
      1.3%, respectively, and other targetable alterations were identified in 36.1% of 
      the cases. Of patients with additionally identified actionable alterations, 32.6% 
      (31/95) received matched therapy with a clinical benefit of 48.4% (15/31). 
      CONCLUSION: Even though the conventional and NGS methods were concordant in the 
      majority of cases, NGS testing still revealed a considerable number of additional 
      EGFR, ALK, and ROS1 alterations, as well as other targetable alterations, in 
      Korean advanced-stage lung cancer patients. Given the high frequency of EGFR and 
      other targetable mutations identified in the present study, NGS testing is highly 
      recommended in the diagnosis of Korean lung cancer patients.
FAU - Park, Eunhyang
AU  - Park E
AD  - Department of Pathology, Severance Hospital, Yonsei University College of 
      Medicine, Seoul, Korea.
FAU - Shim, Hyo Sup
AU  - Shim HS
AD  - Department of Pathology, Severance Hospital, Yonsei University College of 
      Medicine, Seoul, Korea.
LA  - eng
GR  - 2018R1D1A1B07047811/National Research Foundation of Korea/
GR  - Ministry of Education/
PT  - Journal Article
DEP - 20191108
PL  - Korea (South)
TA  - Cancer Res Treat
JT  - Cancer research and treatment
JID - 101155137
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Female
MH  - Gene Rearrangement/*genetics
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Lung Neoplasms/*genetics
MH  - Male
MH  - Middle Aged
MH  - Proto-Oncogene Mas
MH  - Republic of Korea
PMC - PMC7176968
OTO - NOTNLM
OT  - Anaplastic lymphoma kinase
OT  - Epidermal growth factor receptor
OT  - Lung neoplasms
OT  - Molecular diagnostics
OT  - Next-generation sequencing
OT  - ROS proto-oncogene 1 (ROS1)
COIS- Conflict of interest relevant to this article was not reported.
EDAT- 2019/11/15 06:00
MHDA- 2020/12/22 06:00
PMCR- 2020/04/01
CRDT- 2019/11/15 06:00
PHST- 2019/06/03 00:00 [received]
PHST- 2019/11/08 00:00 [accepted]
PHST- 2019/11/15 06:00 [pubmed]
PHST- 2020/12/22 06:00 [medline]
PHST- 2019/11/15 06:00 [entrez]
PHST- 2020/04/01 00:00 [pmc-release]
AID - crt.2019.305 [pii]
AID - crt-2019-305 [pii]
AID - 10.4143/crt.2019.305 [doi]
PST - ppublish
SO  - Cancer Res Treat. 2020 Apr;52(2):543-551. doi: 10.4143/crt.2019.305. Epub 2019 
      Nov 8.