دورية أكاديمية
أعرض في EDS

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

التفاصيل البيبلوغرافية
العنوان: Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.
المؤلفون: Schwab C; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Cranston RE; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Ryan SL; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Butler E; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Winterman E; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Hawking Z; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Bashton M; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Enshaei A; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Russell LJ; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Kingsbury Z; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Peden JF; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Barretta E; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Murray J; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Gibson J; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Hinchliffe AC; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Bain R; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Vora A; Department of Haematology, Great Ormond Street Hospital, London, UK., Bentley DR; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Ross MT; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Moorman AV; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK., Harrison CJ; Leukaemia Research Cytogenetics Group, Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle upon Tyne, UK. christine.harrison@newcastle.ac.uk.
المصدر: Leukemia [Leukemia] 2023 Mar; Vol. 37 (3), pp. 529-538. Date of Electronic Publication: 2022 Dec 22.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE
أسماء مطبوعة: Publication: 2000- : London : Nature Publishing Group, Specialist Journals
Original Publication: [Baltimore, Md.] : Williams & Wilkins, [c1987-
مواضيع طبية MeSH: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Humans ; Clinical Trials as Topic ; Genetic Markers ; Genomics ; Neoplasm Recurrence, Local ; Prognosis ; Child
مستخلص: Incorporating genetics into risk-stratification for treatment of childhood B-progenitor acute lymphoblastic leukaemia (B-ALL) has contributed significantly to improved survival. In about 30% B-ALL (B-other-ALL) without well-established chromosomal changes, new genetic subtypes have recently emerged, yet their true prognostic relevance largely remains unclear. We integrated next generation sequencing (NGS): whole genome sequencing (WGS) (n = 157) and bespoke targeted NGS (t-NGS) (n = 175) (overlap n = 36), with existing genetic annotation in a representative cohort of 351 B-other-ALL patients from the childhood ALL trail, UKALL2003. PAX5alt was most frequently observed (n = 91), whereas PAX5 P80R mutations (n = 11) defined a distinct PAX5 subtype. DUX4-r subtype (n = 80) was defined by DUX4 rearrangements and/or ERG deletions. These patients had a low relapse rate and excellent survival. ETV6::RUNX1-like subtype (n = 21) was characterised by multiple abnormalities of ETV6 and IKZF1, with no reported relapses or deaths, indicating their excellent prognosis in this trial. An inferior outcome for patients with ABL-class fusions (n = 25) was confirmed. Integration of NGS into genomic profiling of B-other-ALL within a single childhood ALL trial, UKALL2003, has shown the added clinical value of NGS-based approaches, through improved accuracy in detection and classification into the range of risk stratifying genetic subtypes, while validating their prognostic significance.
(© 2022. The Author(s).)
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معلومات مُعتمدة: 27193 United Kingdom CRUK_ Cancer Research UK
المشرفين على المادة: 0 (Genetic Markers)
تواريخ الأحداث: Date Created: 20221222 Date Completed: 20230311 Latest Revision: 20240210
رمز التحديث: 20240210
مُعرف محوري في PubMed: PMC9991913
DOI: 10.1038/s41375-022-01799-4
PMID: 36550215
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-5551
DOI:10.1038/s41375-022-01799-4