The potential and limitation of targeted chromosomal breakpoint sequencing for the ROS1 fusion gene identification in lung cancer

被引:0
作者
Hung, Ming-Szu [1 ,2 ,3 ]
Lin, Yu-Ching [1 ,2 ,3 ]
Chen, Fen-Fen [4 ]
Jiang, Yuan-Yuan [1 ]
Fang, Yu-Hung [1 ]
Lu, Ming-Shian [5 ]
Lin, Chin-Kuo [2 ]
Yang, Tsung-Ming [2 ]
Lung, Jrhau [6 ]
Chen, Chih-Cheng [2 ,7 ]
Lee, Kuan-Der [8 ]
Tsai, Ying-Huang [9 ,10 ]
机构
[1] Chang Gung Mem Hosp, Dept Pulm & Crit Care Med, Chiayi Branch, Taipei, Taiwan
[2] Chang Gung Univ, Coll Med, Dept Med, Taoyuan, Taiwan
[3] Chang Gung Univ Sci & Technol, Dept Resp Care, Chiayi Campus, Puzi, Chiayi, Taiwan
[4] Chang Gung Mem Hosp, Dept Pathol, Chiayi Branch, Taipei, Taiwan
[5] Chang Gung Mem Hosp, Dept Surg, Div Thorac & Cardiovasc Surg, Chiayi Branch, Taipei, Taiwan
[6] Chang Gung Mem Hosp, Dept Med Res & Dev, Chiayi Branch, Taipei, Taiwan
[7] Chang Gung Mem Hosp, Dept Hematol & Oncol, Chiayi Branch, Taipei, Taiwan
[8] Taipei Med Univ Hosp, Dept Hematol & Oncol, Taipei 110, Taiwan
[9] Chang Gung Univ, Coll Med, Dept Resp Care, Taoyuan, Taiwan
[10] Chang Gung Mem Hosp, Dept Pulm & Crit Care Med, Linkou Branch, Taipei, Taiwan
来源
AMERICAN JOURNAL OF CANCER RESEARCH | 2022年 / 12卷 / 05期
关键词
Lung cancer; ROS1 fusion gene; targeted chromosomal breakpoint sequencing; FISH; IHC; RT-qPCR; ALK FUSIONS; REARRANGEMENT; CRIZOTINIB; ADENOCARCINOMA; TRANSLOCATION; PCR;
D O I
暂无
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
ROS1 fusion genes are rare but important driver genes in lung cancer. Owing to their rarity, many clinicopathological features and treatment responses for each ROS1 fusion variant are still largely unknown and require further investigation. RNA is the preferable template for the ROS1 fusion gene screening, but deterioration of RNA in FFPE often makes the detection challenging. To resolve the difficulty, a targeted chromosomal breakpoint sequencing method was developed for searching the ROS1 fusion gene, and was compared with fluorescence in situ hybridization, immunohistochemistry, RT-qPCR using 260 lung cancer samples of Southern Taiwan. The results showed that ROS1-altered cases were present at low frequencies, did not share distinct clinicopathological features, and often carried other driver mutations. The performance of the targeted sequencing assay was superior to the RTqPCR in ROS1 fusion gene identification when the cDNAs were from FFPE samples, but long-read DNA sequencing and fresh-frozen samples would be better to revolve all fusion genes. Precise determination of all ROS1 fusion variants and concomitant driver mutations using both genomic DNA and RNA would be required to help improve the treatment of patients with ROS1 alterations.
引用
收藏
页码:2376 / +
页数:16
相关论文
共 41 条
[1]   ROS1 and ALK Fusions in Colorectal Cancer, with Evidence of Intratumoral Heterogeneity for Molecular Drivers [J].
Aisner, Dara L. ;
Nguyen, Teresa T. ;
Paskulin, Diego D. ;
Le, Anh T. ;
Haney, Jerry ;
Schulte, Nathan ;
Chionh, Fiona ;
Hardingham, Jenny ;
Mariadason, John ;
Tebbutt, Niall ;
Doebele, Robert C. ;
Weickhardt, Andrew J. ;
Varella-Garcia, Marileila .
MOLECULAR CANCER RESEARCH, 2014, 12 (01) :111-118
[2]   Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences [J].
Bacolla, Albino ;
Tainer, John A. ;
Vasquez, Karen M. ;
Cooper, David N. .
NUCLEIC ACIDS RESEARCH, 2016, 44 (12) :5673-5688
[3]   Chromosome 3 Anomalies Investigated by Genome Wide SNP Analysis of Benign, Low Malignant Potential and Low Grade Ovarian Serous Tumours [J].
Birch, Ashley H. ;
Arcand, Suzanna L. ;
Oros, Kathleen K. ;
Rahimi, Kurosh ;
Watters, A. Kevin ;
Provencher, Diane ;
Greenwood, Celia M. ;
Mes-Masson, Anne-Marie ;
Tonin, Patricia N. .
PLOS ONE, 2011, 6 (12)
[4]   EXPRESSION AND REARRANGEMENT OF THE ROS1 GENE IN HUMAN GLIOBLASTOMA CELLS [J].
BIRCHMEIER, C ;
SHARMA, S ;
WIGLER, M .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) :9270-9274
[5]   ROS1 Immunohistochemistry Among Major Genotypes of Non-Small-Cell Lung Cancer [J].
Boyle, Theresa A. ;
Masago, Katsuhiro ;
Ellison, Kim E. ;
Yatabe, Yasushi ;
Hirsch, Fred R. .
CLINICAL LUNG CANCER, 2015, 16 (02) :106-111
[6]   BBMerge - Accurate paired shotgun read merging via overlap [J].
Bushnell, Brian ;
Rood, Jonathan ;
Singer, Esther .
PLOS ONE, 2017, 12 (10)
[7]  
Chen RL, 2015, J CLIN ONCOL, V33
[8]   Identification of Existing Drugs That Effectively Target NTRK1 and ROS1 Rearrangements in Lung Cancer [J].
Chong, Curtis R. ;
Bahcall, Magda ;
Capelletti, Marzia ;
Kosaka, Takayuki ;
Ercan, Dalia ;
Sim, Taebo ;
Sholl, Lynette M. ;
Nishino, Mizuki ;
Johnson, Bruce E. ;
Gray, Nathanael S. ;
Janne, Pasi A. .
CLINICAL CANCER RESEARCH, 2017, 23 (01) :204-213
[9]   Fusion genes and chromosome translocations in the common epithelial cancers [J].
Edwards, Paul A. W. .
JOURNAL OF PATHOLOGY, 2010, 220 (02) :244-254
[10]   Paraffin Embedding Contributes to RNA Aggregation, Reduced RNA Yield, and Low RNA Quality [J].
Evers, David L. ;
He, Junkun ;
Kim, Yeon Ho ;
Mason, Jeffrey T. ;
O'Leary, Timothy J. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2011, 13 (06) :687-694