scholarly journals 386P Oncogenic fusions in CNS gliomas assessed by next generation sequencing: The real-world experience

2020 ◽  
Vol 31 ◽  
pp. S405-S406
Author(s):  
J. Polivka ◽  
M. Svajdler ◽  
V. Priban ◽  
P. Martinek ◽  
N. Ptakova ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Real World ◽  
Next Generation ◽  
The Real ◽  
Generation Sequencing

scholarly journals Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort

2020 ◽  
pp. jclinpath-2020-206570
Author(s):  
Olga Michail ◽  
Patrick McCallion ◽  
Julie McGimpsey ◽  
Andrew Hindley ◽  
Graeme Greenfield ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Real World ◽  
Triple Negative ◽  
Bone Marrow Examination ◽  
Driver Mutations ◽  
Routine Practice ◽  
Essential Thrombocythaemia ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Essential thrombocythaemia (ET) is driven by somatic mutations involving the JAK2, CALR and MPL genes. Approximately 10% of patients lack driver mutations and are referred as ‘triple-negative’ ET (TN-ET). The diagnosis of TN-ET, however, relies on bone marrow examination that is not always performed in routine practice, and thus in the real-world setting, there are a group of cases with suspected TN-myeloproliferativeneoplasm.In this real-world cohort, patients with suspected TN-ET were initially rescreened for JAK2, CALR and MPL and then targeted next-generation sequencing (NGS) was applied.The 35 patients with suspected TN-ET had a median age at diagnosis of 43 years (range 16–79) and a follow-up of 10 years (range 2–28). The median platelet count was 758×109/L (range 479–2903). Thrombosis prior to and following diagnosis was noted in 20% and 17% of patients. Six patients were JAK2V617F and two patients were CALR positive on repeat screening. NGS results showed that 24 of 27 patients harboured no mutations. Four mutations were noted in three patients.There was no evidence of clonality for the majority of patients with suspected TN-ET with targeted NGS analysis. Detection of driver mutations in those who were previously screened suggests that regular rescreening is required. This study also questions the diagnosis of TN-ET without the existence of a clonal marker.

scholarly journals Next-Generation Sequencing of Patients With Breast Cancer in Community Oncology Clinics

2021 ◽  
pp. 1297-1311
Author(s):  
Emma G. Sturgill ◽  
Amanda Misch ◽  
Rebecca Lachs ◽  
Carissa C. Jones ◽  
Dan Schlauch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Next Generation Sequencing ◽  
Real World ◽  
Hormone Receptor ◽  
Next Generation ◽  
Data Set ◽  
Landscape Studies ◽  
Community Oncology ◽  
Genomic Landscape ◽  
Generation Sequencing

PURPOSE Molecular biomarkers informing disease diagnosis, prognosis, and treatment decisions in patients with breast cancer are being uncovered by next-generation sequencing (NGS) technologies. In this study, we survey how NGS is used for patients with breast cancer in real-world settings with a focus on physician behaviors and sequencing results. METHODS We conducted a retrospective analysis of patients with breast cancer who received NGS testing from commercial vendors as part of standard of care from 2014 to 2019. A total of 2,635 NGS reports from 2,316 unique breast cancer patients were assessed. Hormone receptor and human epidermal growth factor receptor 2 statuses were abstracted from patient medical records. Comparative gene amplification and mutation frequencies were analyzed using Pearson's correlation and Lin's concordance statistics. RESULTS The number of physicians ordering NGS tests for patients with breast cancer increased more than six-fold from 2014 to 2019. Tissue- and plasma-based tests were ordered roughly equally by 2019, with plasma-based testing ordered most frequently in hormone receptor–positive subtypes. Patients with triple-negative breast cancer were most likely to receive NGS testing. Gene amplifications including ERBB2 were detected less frequently in our real-world data set as compared to previous genomic landscape studies, whereas the opposite was true for gene mutations including ESR1. Pathogenic mutations in the PI3K pathway (38.6%) and DNA damage repair pathway (11.0%) were frequently reported. Alterations were also reported across other cellular pathways. CONCLUSION Overall, we found that an increasing number of physicians in community settings are adopting NGS in the care of patients with breast cancer. Discrepancies between our real-world NGS data and previous genomic landscape studies are likely owed to the prevalence of plasma-based testing in community oncology clinics, as the reference data were from tissue-based NGS alone.

P59.22 Biomarker Testing for Advanced Lung Cancer by Next-Generation Sequencing in Real World Practice

2021 ◽  
Vol 16 (10) ◽  
pp. S1157
Author(s):  
J.N. Minatta ◽  
Y. Ferreira ◽  
A. Antivero ◽  
J. Pandolfi ◽  
H. Garcia Rivello ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Real World ◽  
Advanced Lung Cancer ◽  
Next Generation ◽  
Biomarker Testing ◽  
Generation Sequencing

The real-life performance of metagenomic next-generation sequencing in sepsis

2021 ◽  
Author(s):  
Mei Yin ◽  
Yue Zheng ◽  
Lu Zhang ◽  
Weidong Qin ◽  
Hui Han ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Real Life ◽  
Next Generation ◽  
The Real ◽  
Generation Sequencing

Real-world application of next generation sequencing to guide therapeutic options in lymphoma.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e14645-e14645
Author(s):  
Molly Tokaz ◽  
Anthony Scott ◽  
Maryann Shango ◽  
Sumana Devata ◽  
Shannon Carty ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Real World ◽  
Local Treatment ◽  
Therapeutic Targets ◽  
Therapeutic Options ◽  
Next Generation ◽  
Considerable Uncertainty ◽  
Generation Sequencing

e14645 Background: Despite the increasing availability of targeted and novel therapies, successful treatment of many relapsed/refractory lymphomas remains a challenge. Tumor sequencing is becoming an increasingly available technique to identify potential therapeutic targets; however, there remains considerable uncertainty about the successful application of this data in a “real world” clinical setting. Methods: Herein, we describe 91 lymphoma patients who underwent DNA & RNA sequencing of tumor biopsies via the MIONCOSEQ protocol to identify actionable therapeutic targets. Their charts were reviewed for the clinical use of MIONCOSEQ recommendations. Results: Among the 91 patients were 13 Lymphoma subtypes. Most patients had Stage III/IV disease (68%) at diagnosis, underwent an average of 4 treatments before sequencing (range 0-16) and had approximately 47 distinct molecular alterations (range 2-447). Of the cohort, 60 patients (65%) had actionable targets identified of which 11 ultimately received treatment based on MIONCOSEQ recommendations. The remaining patients did not receive treatment due to multiple reasons: prior CR or on surveillance not requiring treatment (10); death (12); trial ineligibility (4); trial unavailability at the institution (8); patient preference for local treatment (6); and already on alternative treatments (9). Taken as a whole, sequencing late in the disease course and a lack of available clinical trials were identified as barriers for the incorporation of MIONCOSEQ data into clinical practice. Therefore, earlier sequencing and strategies to bolster the availability of targeted therapies may significantly increase the application of genomic data and precision medicine in clinical practice. Conclusions: While next generation sequencing (NGS) is a powerful tool for advancing precision medicine, meaningful clinical application of these results remains a challenge. Our study indicates that early sequencing and improved trial availability could be beneficial in increasing real-world therapeutic options for relapsed/refractory lymphoma. Further research is needed to determine the extent to which a personalized approach, informed by NGS data, improves outcomes.

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