Comparison of the Data of a Next-Generation Sequencing Panel from K-MASTER Project with That of Orthogonal Methods for Detecting Targetable Genetic Alterations
- Author:
Yoon Ji CHOI
1
;
Jung Yoon CHOI
;
Ju Won KIM
;
Ah Reum LIM
;
Youngwoo LEE
;
Won Jin CHANG
;
Soohyeon LEE
;
Jae Sook SUNG
;
Hee-Joon CHUNG
;
Jong Won LEE
;
Eun Joo KANG
;
Jung Sun KIM
;
Taekyu LIM
;
Hye Sook KIM
;
Yu Jung KIM
;
Mi Sun AHN
;
Young Saing KIM
;
Ji Hyun PARK
;
Seungtaek LIM
;
Sung Shim CHO
;
Jang Ho CHO
;
Sang Won SHIN
;
Kyong Hwa PARK
;
Yeul Hong KIM
Author Information
- Publication Type:Original Article
- From:Cancer Research and Treatment 2022;54(1):30-39
- CountryRepublic of Korea
- Language:English
-
Abstract:
Purpose:K-MASTER project is a Korean national precision medicine platform that screened actionable mutations by analyzing next-generation sequencing (NGS) of solid tumor patients. We compared gene analyses between NGS panel from the K-MASTER project and orthogonal methods.
Materials and Methods:Colorectal, breast, non–small cell lung, and gastric cancer patients were included. We compared NGS results from K-MASTER projects with those of non-NGS orthogonal methods (KRAS, NRAS, and BRAF mutations in colorectal cancer [CRC]; epidermal growth factor receptor [EGFR], anaplastic lymphoma kinase [ALK] fusion, and reactive oxygen species 1 [ROS1] fusion in non–small cell lung cancer [NSCLC], and Erb-B2 receptor tyrosine kinase 2 (ERBB2) positivity in breast and gastric cancers).
Results:In the CRC cohort (n=225), the sensitivity and specificity of NGS were 87.4% and 79.3% (KRAS); 88.9% and 98.9% (NRAS); and 77.8% and 100.0% (BRAF), respectively. In the NSCLC cohort (n=109), the sensitivity and specificity of NGS for EGFR were 86.2% and 97.5%, respectively. The concordance rate for ALK fusion was 100%, but ROS1 fusion was positive in only one of three cases that were positive in orthogonal tests. In the breast cancer cohort (n=260), ERBB2 amplification was detected in 45 by NGS. Compared with orthogonal methods that integrated immunohistochemistry and in situ hybridization, sensitivity and specificity were 53.7% and 99.4%, respectively. In the gastric cancer cohort (n=64), ERBB2 amplification was detected in six by NGS. Compared with orthogonal methods, sensitivity and specificity were 62.5% and 98.2%, respectively.
Conclusion:The results of the K-MASTER NGS panel and orthogonal methods showed a different degree of agreement for each genetic alteration, but generally showed a high agreement rate.