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Next generation sequencing AND lung cancer

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https://www.readbyqxmd.com/read/28428148/plasma-ctdna-analysis-for-detection-of-the-egfr-t790m-mutation-in-patients-with-advanced-non-small-cell-lung-cancer
#1
Suzanne Jenkins, James C-H Yang, Suresh S Ramalingam, Karen Yu, Sabina Patel, Susie Weston, Rachel Hodge, Mireille Cantarini, Pasi A Jänne, Tetsuya Mitsudomi, Glenwood D Goss
INTRODUCTION: Tumor biopsies for detecting epidermal growth factor receptor mutations (EGFRm) in advanced non-small cell lung cancer (NSCLC) are invasive, costly and not always feasible for patients with late-stage disease. The clinical utility of the cobas(®) EGFR Mutation Test v2 with plasma samples from patients with NSCLC at disease progression following previous EGFR-tyrosine kinase inhibitor (TKI) therapy was investigated to determine osimertinib treatment eligibility. METHODS: Matched tumor tissue and plasma samples from patients screened for AURA extension and AURA2 phase II studies were tested for EGFRm using tissue- and plasma-based cobas(®) EGFR Mutation Tests v2...
April 17, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28427013/the-accelerated-path-of-ceritinib-translating-pre-clinical-development-into-clinical-efficacy
#2
REVIEW
Tony S K Mok, Lucio Crino, Enriqueta Felip, Ravi Salgia, Tommaso De Pas, Daniel S W Tan, Laura Q M Chow
The discovery of anaplastic lymphoma kinase (ALK)-rearranged non-small-cell lung cancer (NSCLC) in 2007 led to the development and subsequent approval of the ALK inhibitor crizotinib in 2011. However, despite its clinical efficacy, resistance to crizotinib invariably develops. There is now a next generation of ALK inhibitors, including two that have been approved-ceritinib and alectinib-and others that are in development-brigatinib, lorlatinib and X-396. Ceritinib and the other next-generation ALK inhibitors are more potent than crizotinib and can overcome tumor cell resistance mechanisms...
March 30, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/28415793/clinical-framework-for-next-generation-sequencing-based-analysis-of-treatment-predictive-mutations-and-multiplexed-gene-fusion-detection-in-non-small-cell-lung-cancer
#3
Kajsa Ericson Lindquist, Anna Karlsson, Per Levéen, Hans Brunnström, Christel Reuterswärd, Karolina Holm, Mats Jönsson, Karin Annersten, Frida Rosengren, Karin Jirström, Jaroslaw Kosieradzki, Lars Ek, Åke Borg, Maria Planck, Göran Jönsson, Johan Staaf
Precision medicine requires accurate multi-gene clinical diagnostics. We describe the implementation of an Illumina TruSight Tumor (TST) clinical NGS diagnostic framework and parallel validation of a NanoString RNA-based ALK, RET, and ROS1 gene fusion assay for combined analysis of treatment predictive alterations in non-small cell lung cancer (NSCLC) in a regional healthcare region of Sweden (Scandinavia). The TST panel was clinically validated in 81 tumors (99% hotspot mutation concordance), after which 533 consecutive NSCLCs were collected during one-year of routine clinical analysis in the healthcare region (~90% advanced stage patients)...
March 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413430/next-generation-sequencing-of-non-small-cell-lung-cancer-using-a-customized-targeted-sequencing-panel-emphasis-on-small-biopsy-and-cytology
#4
David M DiBardino, David W Rawson, Anjali Saqi, Jonas J Heymann, Carlos A Pagan, William A Bulman
BACKGROUND: Next-generation sequencing (NGS) with a multi-gene panel is now available for patients with lung adenocarcinoma, but the performance characteristics and clinical utility of this testing are not well-described. We present the results of an extended 467 gene panel in a series of advanced, highly selected nonsmall cell lung cancer (NSCLC) patients using a range of specimens, including predominantly small biopsy and cytology specimens. MATERIALS AND METHODS: A retrospective review of 22 NSCLC biopsies sent for NGS using an extended gene panel from January 2014 to July 2015...
2017: CytoJournal
https://www.readbyqxmd.com/read/28393575/using-circulating-cell-free-dna-to-monitor-personalized-cancer-therapy
#5
Michael Oellerich, Ekkehard Schütz, Julia Beck, Philipp Kanzow, Piers N Plowman, Glen J Weiss, Philip D Walson
High-quality genomic analysis is critical for personalized pharmacotherapy in patients with cancer. Tumor-specific genomic alterations can be identified in cell-free DNA (cfDNA) from patient blood samples and can complement biopsies for real-time molecular monitoring of treatment, detection of recurrence, and tracking resistance. cfDNA can be especially useful when tumor tissue is unavailable or insufficient for testing. For blood-based genomic profiling, next-generation sequencing (NGS) and droplet digital PCR (ddPCR) have been successfully applied...
April 10, 2017: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/28391973/the-current-status-and-problems-confronted-in-delivering-precision-medicine-in-japan-and-europe
#6
REVIEW
Hideaki Bando
Precision medicine has been defined as "a predictive, preventive, personalized, and participatory health care service delivery model." Today, developments in next-generation sequencing and information technology have made precision medicine possible, with massive amounts of genetic, "omics," clinical, environmental, and lifestyle data now available. Unfortunately, differences in governmental support and health care regulations have resulted in heterogeneous progress among countries. In Japan, for example, precision cancer screening and treatments are increasingly being promoted, with collaboration among research, governmental, and pharmaceutical agencies taking place in the nationwide SCRUM-Japan cancer genome screening project...
February 22, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/28380452/detection-of-oncogenic-mutations-in-resected-bronchial-margins-by-next-generation-sequencing-indicates-early-relapse-in-stage-ia-lung-adenocarcinoma-patients
#7
Tangfeng Lv, Jiawei Zou, Hongbing Liu, Qin Shen, Zhenfeng Lu, XiaoJun Zhou, Xiaonan Wang, Yong Song
Stage I non-small cell lung cancer (NSCLC) patients experience a relatively high rate of recurrence, ranging from about 30-35%. We hypothesized that this elevated risk of recurrence is due to the presence of tumor cells at bronchial margins which was undetected by conventional light microscopy.Patients with clinical stage IA (T1N0M0) NSCLC were enrolled in this study,which included 8 early-relapse(ER) and 6 no-relapse(NR) patients. Primary tumor, bronchial margin,and normal lung tissues were collected and sent to a central site for targeted next-generation sequencing analysis...
March 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28376164/germline-mutations-in-the-kallikrein-6-region-and-predisposition-for-aggressive-prostate-cancer
#8
Laurent Briollais, Hilmi Ozcelik, Jingxiong Xu, Maciej Kwiatkowski, Emilie Lalonde, Dorota H Sendorek, Neil E Fleshner, Franz Recker, Cynthia Kuk, Ekaterina Olkhov-Mitsel, Tristan Juvet, Ioannis Prassas, John Trachtenberg, Ants Toi, Michael Fraser, Theodorus van der Kwast, Robert G Bristow, Bharati Bapat, Eleftherios P Diamandis, Paul C Boutros, Alexandre R Zlotta
Background: There is a need for markers that can specifically identify individuals at increased risk of harboring aggressive forms of prostate cancer (PCa). Methods: We surveyed the Kallikrein ( KLK ) region ( KLK 1-15) for single-nucleotide polymorphisms (SNPs) associated with aggressive PCa (Gleason Score ≥ 8) in 1858 PCa patients. Discovery cohorts (Swiss arm of the European Randomized Study of Screening for PCa, n = 379; Toronto, Canada, n = 540) and a validation cohort (Prostate, Lung, Colorectal and Ovarian [PLCO] screening trial, n = 939) were analyzed...
April 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28373672/circulating-tumor-dna-mutation-profiling-by-targeted-next-generation-sequencing-provides-guidance-for-personalized-treatments-in-multiple-cancer-types
#9
Yongqian Shu, Xue Wu, Xiaoling Tong, Xiaonan Wang, Zhili Chang, Yu Mao, Xiaofeng Chen, Jing Sun, Zhenxin Wang, Zhuan Hong, Liangjun Zhu, Chunrong Zhu, Jun Chen, Ying Liang, Huawu Shao, Yang W Shao
Cancer is a disease of complex genetic alterations, and comprehensive genetic diagnosis is beneficial to match each patient to appropriate therapy. However, acquisition of representative tumor samples is invasive and sometimes impossible. Circulating tumor DNA (ctDNA) is a promising tool to use as a non-invasive biomarker for cancer mutation profiling. Here we implemented targeted next generation sequencing (NGS) with a customized gene panel of 382 cancer-relevant genes on 605 ctDNA samples in multiple cancer types...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28371134/strandadvantage-test-for-early-line-and-advanced-stage-treatment-decisions-in-solid-tumors
#10
Manimala Sen, Shanmukh Katragadda, Aarthi Ravichandran, Gouri Deshpande, Minothi Parulekar, Swetha Nayanala, Vikram Vittal, Weiming Shen, Melanie Phooi Nee Yong, Jemima Jacob, Sravanthi Parchuru, Kalpana Dhanuskodi, Kenneth Eyring, Pooja Agrawal, Smita Agarwal, Ashwini Shanmugam, Satish Gupta, Divya Vishwanath, Kiran Kumari, Arun K Hariharan, Sai A Balaji, Qiaoling Liang, Belen Robolledo, Vijayashree Gauribidanur Raghavendrachar, Mohammed Oomer Farooque, Cary J Buresh, Preveen Ramamoorthy, Urvashi Bahadur, Kalyanasundaram Subramanian, Ramesh Hariharan, Vamsi Veeramachaneni, Satish Sankaran, Vaijayanti Gupta
Comprehensive genetic profiling of tumors using next-generation sequencing (NGS) is gaining acceptance for guiding treatment decisions in cancer care. We designed a cancer profiling test combining both deep sequencing and immunohistochemistry (IHC) of relevant cancer targets to aid therapy choices in both standard-of-care (SOC) and advanced-stage treatments for solid tumors. The SOC report is provided in a short turnaround time for four tumors, namely lung, breast, colon, and melanoma, followed by an investigational report...
April 3, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28362192/ovarian-metastasis-from-lung-adenocarcinoma-with-alk-positive-rearrangement-detected-by-next-generation-sequencing-a-case-report-and-literatures-review
#11
Xuquan Jing, Feng Li, Xue Meng, Zhitong Liu, Jinming Yu, Bo Liu
Ovarian metastasis is an exceptionally rare condition in lung adenocarcinoma patients and is often difficult to distinguish from primary ovarian carcinoma. ALK (anaplastic lymphoma kinase) tyrosine kinase inhibitors elicit a significant objective response rate and are well-tolerated in advanced ALK-positive lung cancer. Hence, we report a case of a 41-year-old woman with ovarian metastases from NSCLC. After receiving a 6 course first line chemotherapy and 8 course maintenance therapy, the patient suffered acute abdominal pain, so surgery was performed...
March 31, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28357677/identification-of-a-novel-somatic-mutation-leading-to-allele-dropout-for-egfr-l858r-genotyping-in-non-small-cell-lung-cancer
#12
Helio A Costa, Joel W Neal, Carlos D Bustamante, James L Zehnder
OBJECTIVE: While PCR-based genotyping methods abound in molecular testing for lung cancer therapy, these approaches may not provide the robust sensitivity to detect accurate genotypes in a variable cancer genomic background. METHODS: Here, we describe a study of a clinical tumor specimen containing a novel somatic single nucleotide variant that caused allele drop-out in EGFR L858R genotyping, resulting in a false-negative interpretation and impacting patient clinical management...
March 29, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28350094/routine-genetic-testing-of-lung-cancer-specimens-derived-from-surgery-bronchoscopy-and-fluid-aspiration-by-next-generation-sequencing
#13
Gou Yamamoto, Mari Kikuchi, Shiho Kobayashi, Yoshiko Arai, Kenji Fujiyoshi, Tomokazu Wakatsuki, Miho Kakuta, Yuki Yamane, Yoshihito Iijima, Hideaki Mizutani, Yuki Nakajima, Junko Sudo, Hiroyasu Kinoshita, Futoshi Kurimoto, Hirohiko Akiyama, Hidetaka Uramoto, Hiroshi Sakai, Yoshito Akagi, Kiwamu Akagi
After the development of EGFR tyrosine kinase inhibitors (TKIs), genetic testing of EGFR became required for effective treatment of lung cancer. Initially, the testing was conducted separately for each mutated region. However, many EGFR mutations have since been identified that determine the efficacy of EGFR-TKIs. Therefore, genetic testing of EGFR by next generation sequencing (NGS) may be a suitable strategy for lung cancer. Here we examined the applicability of the NGS method in regard to sensitivity, time and cost...
March 27, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28347348/targeted-sequencing-may-facilitate-differential-diagnostics-of-pulmonary-tumours-a-case-series
#14
Kajsa Ericson-Lindquist, Anna Johansson, Per Levéen, Göran Elmberger, Göran Jönsson, Johan Staaf, Hans Brunnström
BACKGROUND: Histopathological diagnosis is important for prognostication and choice of treatment in patients with cancer in the lung. Metastases to the lungs are common and need to be distinguished from primary lung cancer. Furthermore, cases with synchronous or metachronous primary lung cancers (although infrequent) are often handled differently than cases with lung cancer with intrapulmonary metastasis or relapse, respectively. In some cases, morphology and immunohistochemical staining is not sufficient for certain diagnosis...
March 27, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28303491/changing-the-therapeutic-landscape-in-non-small-cell-lung-cancers-the-evolution-of-comprehensive-molecular-profiling-improves-access-to-therapy
#15
REVIEW
Joshua K Sabari, Fernando Santini, Isabella Bergagnini, W Victoria Lai, Kathryn C Arbour, Alexander Drilon
Targeting genomic alterations has led to a paradigm shift in the treatment of patients with lung cancer. In an effort to better identify potentially actionable alterations that may predict response to FDA-approved and or investigational therapies, many centers have migrated towards performing targeted exome sequencing in patients with stage IV disease. The implementation of next-generation sequencing (NGS) in the evaluation of tumor tissue from patients with NSCLC has led to the discovery of targetable alterations in tumors that previously had no known actionable targets by less comprehensive profiling...
April 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28302568/mutational-profile-from-targeted-ngs-predicts-survival-in-ldct-screening-detected-lung-cancers
#16
Carla Verri, Cristina Borzi, Todd Holscher, Matteo Dugo, Andrea Devecchi, Katherine Drake, Stefano Sestini, Paola Suatoni, Elisa Romeo, Gabriella Sozzi, Ugo Pastorino, Mattia Boeri
BACKGROUND: The issue of overdiagnosis in low-dose computed tomography (LDCT)-screening trials could be addressed by the development of complementary biomarkers able to improve detection of aggressive disease. The mutation profile of LDCT screening-detected lung tumours is currently unknown. METHODS: Targeted next-generation sequencing was performed in 94 LDCT screening-detected lung tumours. Associations with clinicopathologic features, survival and the risk profile of a plasma microRNA signature classifier (MSC) were analyzed...
March 13, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28290769/sequencing-brain-metastases-and-opportunities-for-targeted-therapies
#17
Ugonma N Chukwueke, Priscilla K Brastianos
CNS metastases have long been recognized as a common and late complication of systemic malignancies. They represent the most common tumor of the brain. As outcomes and overall survival improve with better tolerated and more durable responses from therapies for systemic cancers, the incidence and prevalence of brain metastases is likely to increase. Among the most common systemic cancers leading to brain metastases include lung, melanoma, breast (triple-negative histology) and renal cell cancers. To date, there has been infrequent involvement of gastrointestinal and gynecologic malignancies; however, this may also change, reflecting improvement in overall survival and therapeutic regimens...
March 14, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28275538/analysis-of-significantly-mutated-genes-as-a-clinical-tool-for-the-diagnosis-in-a-case-of-lung-cancer
#18
Yoshihiro Miyashita, Yosuke Hirotsu, Toshiharu Tsutsui, Seishi Higashi, Yusuke Sogami, Yumiko Kakizaki, Taichiro Goto, Kenji Amemiya, Toshio Oyama, Masao Omata
Bronchoendoscopic examination is not necessarily comfortable procedure and limited by its sensitivity, depending on the location and size of the tumor lesion. Patients with a non-diagnostic bronchoendoscopic examination often undergo further invasive examinations. Non-invasive diagnostic tool of lung cancer is desired. A 72-year-old man had a 3.0 cm × 2.5 cm mass lesion in the segment B1 of right lung. Cytological examination of sputum, bronchial washing and curetted samples were all "negative". We could confirm a diagnosis of lung cancer after right upper lung lobe resection pathologically, and also obtained concordant results by genomic analysis using cytological negative samples from airways collected before operation...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28272845/accuracy-of-next-generation-sequencing-for-the-identification-of-clinically-relevant-variants-in-cytology-smears-in-lung-adenocarcinoma
#19
Jordan E Baum, Pan Zhang, Rana S Hoda, Brian Geraghty, Hanna Rennert, Navneet Narula, Helen D Fernandes
BACKGROUND: Minimally invasive diagnostic procedures such as needle-core biopsy and fine-needle aspiration provide adequate material for molecular analyses. Advances in precision oncology are trending toward the interrogation of limited amounts of genomic material to guide clinical and therapeutic decisions. The aim of this study was to investigate the minimum cellularity needed on cytologic smears for the identification of clinically relevant variants with next-generation sequencing (NGS)...
March 8, 2017: Cancer
https://www.readbyqxmd.com/read/28240049/deep-sequencing-of-the-tp53-gene-reveals-a-potential-risk-allele-for-non-small-cell-lung-cancer-and-supports-the-negative-prognostic-value-of-tp53-variants
#20
Christophe Deben, Jolien Van den Bossche, Nele Van Der Steen, Filip Lardon, An Wouters, Ken Op de Beeck, Christophe Hermans, Julie Jacobs, Marc Peeters, Guy Van Camp, Christian Rolfo, Vanessa Deschoolmeester, Patrick Pauwels
The TP53 gene remains the most frequently altered gene in human cancer, of which variants are associated with cancer risk, therapy resistance, and poor prognosis in several tumor types. To determine the true prognostic value of TP53 variants in non-small cell lung cancer, this study conducted further research, particularly focusing on subtype and tumor stage. Therefore, we determined the TP53 status of 97 non-small cell lung cancer adenocarcinoma patients using next generation deep sequencing technology and defined the prognostic value of frequently occurring single nucleotide polymorphisms and mutations in the TP53 gene...
February 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
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