دورية أكاديمية
أعرض في EDS

Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.

التفاصيل البيبلوغرافية
العنوان: Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.
المؤلفون: Leongamornlert D; Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, United Kingdom., Gutiérrez-Abril J; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Lee S; Department of Haematology, University College London (UCL) Cancer Institute, London, United Kingdom., Barretta E; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Creasey T; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Gundem G; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Levine MF; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Arango-Ossa JE; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Liosis K; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Medina-Martinez JS; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Zuborne Alapi K; Department of Haematology, University College London (UCL) Cancer Institute, London, United Kingdom., Kirkwood AA; Cancer Research UK & UCL Cancer Trials Centre, UCL Cancer Institute, UCL, London, United Kingdom., Clifton-Hadley L; Cancer Research UK & UCL Cancer Trials Centre, UCL Cancer Institute, UCL, London, United Kingdom., Patrick P; Cancer Research UK & UCL Cancer Trials Centre, UCL Cancer Institute, UCL, London, United Kingdom., Jones D; Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, United Kingdom., O'Neill L; Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, United Kingdom., Butler AP; Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, United Kingdom., Harrison CJ; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Campbell P; Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, United Kingdom., Patel B; Department of Haemato-Oncology, Barts Cancer Institute, Queen Mary University, London, United Kingdom., Moorman AV; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Fielding AK; Department of Haematology, University College London (UCL) Cancer Institute, London, United Kingdom., Papaemmanuil E; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.
المصدر: Blood advances [Blood Adv] 2023 Aug 08; Vol. 7 (15), pp. 3862-3873.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Washington, DC : American Society of Hematology, [2016]-
مواضيع طبية MeSH: Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/metabolism, Humans ; Adult ; Mutation ; Whole Genome Sequencing ; Abnormal Karyotype
مستخلص: Genomic profiling during the diagnosis of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in adults is used to guide disease classification, risk stratification, and treatment decisions. Patients for whom diagnostic screening fails to identify disease-defining or risk-stratifying lesions are classified as having B-other ALL. We screened a cohort of 652 BCP-ALL cases enrolled in UKALL14 to identify and perform whole genome sequencing (WGS) of paired tumor-normal samples. For 52 patients with B-other, we compared the WGS findings with data from clinical and research cytogenetics. WGS identified a cancer-associated event in 51 of 52 patients, including an established subtype defining genetic alterations that were previously missed with standard-of-care (SoC) genetics in 5 of them. Of the 47 true B-other ALL, we identified a recurrent driver in 87% (41). A complex karyotype via cytogenetics emerges as a heterogeneous group, including distinct genetic alterations associated with either favorable (DUX4-r) or poor outcomes (MEF2D-r and IGK::BCL2). For a subset of 31 cases, we integrated the findings from RNA sequencing (RNA-seq) analysis to include fusion gene detection and classification based on gene expression. Compared with RNA-seq, WGS was sufficient to detect and resolve recurrent genetic subtypes; however, RNA-seq can provide orthogonal validation of findings. In conclusion, we demonstrated that WGS can identify clinically relevant genetic abnormalities missed with SoC testing as well as identify leukemia driver events in virtually all cases of B-other ALL.
(© 2023 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)
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معلومات مُعتمدة: 9609 United Kingdom CRUK_ Cancer Research UK; P30 CA008748 United States CA NCI NIH HHS
تواريخ الأحداث: Date Created: 20230303 Date Completed: 20230728 Latest Revision: 20240228
رمز التحديث: 20240228
مُعرف محوري في PubMed: PMC10405200
DOI: 10.1182/bloodadvances.2022008992
PMID: 36867579
قاعدة البيانات: MEDLINE
الوصف
تدمد:2473-9537
DOI:10.1182/bloodadvances.2022008992