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Vol.62 No.3 contents Japanese/English

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- Original Article -

Comprehensive Genome Profiles Obtained by Next-generation Sequencing Using the Cytological Samples in Our Hospital

Yukihiro Hasegawa1, Takeshi Morimoto1, Dai Miura1, Koichi Hagiwara2
1Department of Respiratory Medicine, Aomori Prefectural Central Hospital, Japan, 2Department of Respiratory Medicine, Jichi Medical University, Japan

Objective. We herein report the comprehensive genome profiles obtained by next-generation sequencing (MINtS) using cytological samples (following cell samples) in our hospital. Method. After having registered various kinds of cell samples gathered by examinations performed for cases suspected of being lung cancer at our hospital with the North East Japan Study Group 021A study, we sent the samples to a genetic testing facility. Analyses of EGFR, KRAS, BRAF, and HER2 gene mutations were performed, and ALK, RET, and ROS1 fusion was done. Results. The 1298 samples sent to the facility from December 2015 to June 2019 were all cell samples. The most common EGFR gene mutation was lung adenocarcinoma, which was found in 164 (27.2%) out of 602 samples. The EGFR mutation was more found in 97 (48%) samples with never smoker and in 97 (47%) samples with female, significantly (P<0.01). The KRAS gene mutation was found in 89 samples (15%), and 1 was more found in 72 samples (20%), significantly (P<0.01). The Cobas® EGFR Mutation Test version 2.0 of the available EGFR genetic test was performed in 380 patients with lung adenocarcinoma, and the positive conformity ratio was 82.6%, with a negative coincidence rate of 95.2% for MINtS. Conclusion. These findings suggest that MINtS performed using cell samples, which are easier to acquire than tumor tissue, is a promising comprehensive gene variation laboratory procedure for next-generation sequencing in lung cancer patients.
key words: Cytological sample, Next-generation sequencing, Comprehensive genome profiles, MINtS, Lung cancer

Received: November 18, 2021
Accepted: December 27, 2021

JJLC 62 (3): 200-206, 2022

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