Comprehensive assay for the molecular profiling of cancer by target enrichment from formalin‐fixed paraffin‐embedded specimens

• DOI: 10.1111/cas.13968
• Publication Date: 2019-02-09T14:54:35Z
• Authors: Shinji Kohsaka; Kenji Tatsuno; Toshihide Ueno; Masaaki Nagano; Aya Shinozaki‐Ushiku; Tetsuo Ushiku; Daiya Takai; Masachika Ikegami; Hiroshi Kobayashi; Hidenori Kage; Mizuo Ando; Keisuke Hata; Hiroki Ueda; Shogo Yamamoto; Shinya Kojima; Kumiko Oseto; Keisuke Akaike; Yoshiyuki Suehara; Takuo Hayashi; Tsuyoshi Saito; Fumiyuki Takahashi; Kazuhisa Takahashi; Kazuya Takamochi; Kenji Suzuki; Satoshi Nagayama; Yoshinao Oda; Koshi Mimori; Soichiro Ishihara; Yutaka Yatomi; Takahide Nagase; Jun Nakajima; Sakae Tanaka; Masashi Fukayama; Katsutoshi Oda; Masaomi Nangaku; Kohei Miyazono; Kiyoshi Miyagawa; Hiroyuki Aburatani; Hiroyuki Mano
• Keywords: Microsatellite Instability; Personalized Medicine

Tumor molecular profiling is becoming a standard of care for patients with cancer, but the optimal platform cancer sequencing remains undetermined. We established comprehensive assay, Todai OncoPanel ( TOP ), which consists DNA and RNA hybridization capture‐based next‐generation panels. A novel method target enrichment, named junction capture method, was developed panel to accurately cost‐effectively detect 365 fusion genes as well aberrantly spliced transcripts. The can also measure expression profiles an additional 109 genes. single nucleotide variants insertions/deletions 464 genes, calculate tumor mutation burden microsatellite instability status, infer chromosomal copy number. Clinically relevant somatic mutations were identified in 32.2% (59/183) by prospective testing, signifying clinical utility providing personalized medicine patients.