A Novel Mechanism of EML4-ALK Rearrangement Mediated by Chromothripsis in a Patient-Derived Cell Line

Journal of Thoracic Oncology - Tập 9 - Trang 1638-1646 - 2014
Tatsushi Kodama1, Noriko Motoi2,3, Hironori Ninomiya2,3, Hiroshi Sakamoto1, Kunio Kitada1, Toshiyuki Tsukaguchi1, Yasuko Satoh1, Kimie Nomura2, Hiroko Nagano2, Nobuya Ishii1, Yasuhito Terui4, Kiyohiko Hatake4, Yuichi Ishikawa2,3
1Research Division, Chugai Pharmaceutical Co., Ltd., Kamakura, Japan
2Division of Pathology, The Cancer Institute, Tokyo, Japan
3Department of Pathology, The Cancer Institute Hospital, Tokyo, Japan
4Division of Clinical Chemotherapy, Cancer Chemotherapy Center, Japanese Foundation for Cancer Research, Tokyo, Japan

Tài liệu tham khảo

Kantarjian, 2002, Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia, N Engl J Med, 346, 645, 10.1056/NEJMoa011573 Soda, 2007, Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer, Nature, 448, 561, 10.1038/nature05945 Takeuchi, 2012, RET, ROS1 and ALK fusions in lung cancer, Nat Med, 18, 378, 10.1038/nm.2658 Kohno, 2012, KIF5B-RET fusions in lung adenocarcinoma, Nat Med, 18, 375, 10.1038/nm.2644 Lipson, 2012, Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies, Nat Med, 18, 382, 10.1038/nm.2673 Kwak, 2010, Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer, N Engl J Med, 363, 1693, 10.1056/NEJMoa1006448 Camidge, 2012, Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study, Lancet Oncol, 13, 1011, 10.1016/S1470-2045(12)70344-3 Seto, 2013, CH5424802 (RO5424802) for patients with ALK-rearranged advanced non-small-cell lung cancer (AF-001JP study): a single-arm, open-label, phase 1-2 study, Lancet Oncol, 14, 590, 10.1016/S1470-2045(13)70142-6 Ou, 2013, Efficacy and safety of crizotinib in patients with advanced ROS1-rearranged non-small cell lung cancer (NSCLC), J Clin Oncol, 31, 10.1200/jco.2013.31.15_suppl.8032 Drilon, 2013, Response to cabozantinib in patients with RET fusion-positive lung adenocarcinomas, Cancer Discov, 3, 630, 10.1158/2159-8290.CD-13-0035 Stephens, 2011, Massive genomic rearrangement acquired in a single catastrophic event during cancer development, Cell, 144, 27, 10.1016/j.cell.2010.11.055 Molenaar, 2012, Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes, Nature, 483, 589, 10.1038/nature10910 Magrangeas, 2011, Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients, Blood, 118, 675, 10.1182/blood-2011-03-344069 Kloosterman, 2011, Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer, Genome Biol, 12, R103, 10.1186/gb-2011-12-10-r103 Rausch, 2012, Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations, Cell, 148, 59, 10.1016/j.cell.2011.12.013 Northcott, 2012, Subgroup-specific structural variation across 1,000 medulloblastoma genomes, Nature, 488, 49, 10.1038/nature11327 Sakamoto, 2011, CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant, Cancer Cell, 19, 679, 10.1016/j.ccr.2011.04.004 Kitada, 2012, Coamplification of multiple regions of chromosome 2, including MYCN, in a single patchwork amplicon in cancer cell lines, Cytogenet Genome Res, 136, 30, 10.1159/000334349 Johansson, 2004, Histopathologic classification of lung cancer: Relevance of cytokeratin and TTF-1 immunophenotyping, Ann Diagn Pathol, 8, 259, 10.1016/j.anndiagpath.2004.07.001 Bishop, 2010, Napsin A and thyroid transcription factor-1 expression in carcinomas of the lung, breast, pancreas, colon, kidney, thyroid, and malignant mesothelioma, Hum Pathol, 41, 20, 10.1016/j.humpath.2009.06.014 Sequist, 2011, Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors, Sci Transl Med, 3, 75ra26, 10.1126/scitranslmed.3002003 Devarajan, 2012, Epithelial-mesenchymal transition in breast cancer lines is mediated through PDGF-D released by tissue-resident stem cells, Int J Cancer, 131, 1023, 10.1002/ijc.26493 Bishop, 2012, p40 (DeltaNp63) is superior to p63 for the diagnosis of pulmonary squamous cell carcinoma, Mod Pathol, 25, 405, 10.1038/modpathol.2011.173 Kitada, 2011, Chromosome-specific segmentation revealed by structural analysis of individually isolated chromosomes, Genes Chromosomes Cancer, 50, 217 Katayama, 2011, Therapeutic strategies to overcome crizotinib resistance in non-small cell lung cancers harboring the fusion oncogene EML4-ALK, Proc Natl Acad Sci U S A, 108, 7535, 10.1073/pnas.1019559108 Katayama, 2012, Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers, Sci Transl Med, 4, 120ra17, 10.1126/scitranslmed.3003316 Kuromitsu, 2011, Anti-tumor activity of ASP3026, –A novel and selective ALK inhibitor, Cancer Res, 71, 10.1158/1538-7445.AM2011-2821 Wu, 2012, Poly-gene fusion transcripts and chromothripsis in prostate cancer, Genes Chromosomes Cancer, 51, 1144, 10.1002/gcc.21999 Cazes, 2013, Characterization of rearrangements involving the ALK gene reveals a novel truncated form associated with tumor aggressiveness in neuroblastoma, Cancer Res, 73, 195, 10.1158/0008-5472.CAN-12-1242 Boland, 2009, Anaplastic lymphoma kinase immunoreactivity correlates with ALK gene rearrangement and transcriptional up-regulation in non-small cell lung carcinomas, Hum Pathol, 40, 1152, 10.1016/j.humpath.2009.01.012 Gainor, 2013, ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer, Clin Cancer Res, 19, 4273, 10.1158/1078-0432.CCR-13-0318 Rossi, 2003, Pulmonary carcinomas with pleomorphic, sarcomatoid, or sarcomatous elements: a clinicopathologic and immunohistochemical study of 75 cases, Am J Surg Pathol, 27, 311, 10.1097/00000478-200303000-00004 Tanizaki, 2012, Combined effect of ALK and MEK inhibitors in EML4-ALK-positive non-small-cell lung cancer cells, Br J Cancer, 106, 763, 10.1038/bjc.2011.586 Koivunen, 2008, EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer, Clin Cancer Res, 14, 4275, 10.1158/1078-0432.CCR-08-0168