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Actionable driver DNA variants and fusion genes can be detected in archived cytological specimens with the Oncomine Dx Target Test Multi‐CDx system in lung cancer
Author(s) -
Amemiya Kenji,
Hirotsu Yosuke,
Nagakubo Yuki,
Mochizuki Hitoshi,
Higuchi Rumi,
Tsutsui Toshiharu,
Kakizaki Yumiko,
Miyashita Yoshihiro,
Oyama Toshio,
Omata Masao
Publication year - 2021
Publication title -
cancer cytopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.29
H-Index - 57
eISSN - 1934-6638
pISSN - 1934-662X
DOI - 10.1002/cncy.22434
Subject(s) - anaplastic lymphoma kinase , ros1 , lung cancer , gene , cancer research , fusion gene , epidermal growth factor receptor , oncogene , cancer , biology , molecular diagnostics , receptor tyrosine kinase , computational biology , kinase , microbiology and biotechnology , medicine , genetics , pathology , adenocarcinoma , cell cycle , malignant pleural effusion
BACKGROUND Molecular testing is critical for identifying actionable variants in lung cancer for precision medicine. When tumor tissue samples are unavailable, archived cytological specimens (ACSs) can be used. The authors examined whether oncogenic variants could be accurately detected in ACSs versus paired formalin‐fixed, paraffin‐embedded (FFPE) tumor tissues with in vitro diagnostic tests. METHODS The authors collected 18 ACSs and 15 FFPE tissues from 15 patients with lung cancer and investigated genomic profiles with the Oncomine Dx Target Test Multi‐CDx system, which is an integrated next‐generation sequencing platform that comprehensively examines 4 companion diagnostic target genes (epidermal growth factor receptor [ EGFR ]; B‐Raf proto‐oncogene, serine/threonine kinase [ BRAF ]; anaplastic lymphoma kinase [ ALK ]; and ROS proto‐oncogene 1, receptor tyrosine kinase [ ROS1 ]). They compared the quantity and quality of extracted nucleic acids, the sequencing quality control (QC), and the detected variants between ACSs and FFPE tissues. RESULTS The total amount of DNA and RNA obtained from 1 slide was higher in FFPE tissues than ACSs. The RNA integrity number was higher in ACSs. There were no differences in sequencing QC between ACSs and FFPE tissues. A total of 21 variants, including EGFR mutations and ALK and ROS1 fusion genes, were detected in both ACSs and FFPE tissues with 100% concordance. CONCLUSIONS ACSs can be a feasible alternative with which to identify actionable mutations and fusion genes via the Oncomine Dx Target Test Multi‐CDx system.