دورية أكاديمية
أعرض في EDS

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.

التفاصيل البيبلوغرافية
العنوان: Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.
المؤلفون: Ryan SL; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Peden JF; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Kingsbury Z; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Schwab CJ; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., James T; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Polonen P; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Mijuskovic M; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Becq J; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Yim R; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Cranston RE; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Hedges DJ; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, USA., Roberts KG; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Mullighan CG; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Vora A; Department of Haematology, Great Ormond Street Hospital, London, UK., Russell LJ; Biosciences Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Bain R; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Moorman AV; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Bentley DR; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK., Harrison CJ; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Faculty of Medical Sciences, Newcastle upon Tyne, UK. christine.harrison@newcastle.ac.uk., Ross MT; Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK. mross@illumina.com.
المصدر: Leukemia [Leukemia] 2023 Mar; Vol. 37 (3), pp. 518-528. Date of Electronic Publication: 2023 Jan 19.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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 Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Humans ; Computational Biology ; Genetic Testing ; Whole Genome Sequencing
مستخلص: Childhood B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by recurrent genetic abnormalities that drive risk-directed treatment strategies. Using current techniques, accurate detection of such aberrations can be challenging, due to the rapidly expanding list of key genetic abnormalities. Whole genome sequencing (WGS) has the potential to improve genetic testing, but requires comprehensive validation. We performed WGS on 210 childhood B-ALL samples annotated with clinical and genetic data. We devised a molecular classification system to subtype these patients based on identification of key genetic changes in tumour-normal and tumour-only analyses. This approach detected 294 subtype-defining genetic abnormalities in 96% (202/210) patients. Novel genetic variants, including fusions involving genes in the MAP kinase pathway, were identified. WGS results were concordant with standard-of-care methods and whole transcriptome sequencing (WTS). We expanded the catalogue of genetic profiles that reliably classify PAX5alt and ETV6::RUNX1-like subtypes. Our novel bioinformatic pipeline improved detection of DUX4 rearrangements (DUX4-r): a good-risk B-ALL subtype with high survival rates. Overall, we have validated that WGS provides a standalone, reliable genetic test to detect all subtype-defining genetic abnormalities in B-ALL, accurately classifying patients for the risk-directed treatment stratification, while simultaneously performing as a research tool to identify novel disease biomarkers.
(© 2023. The Author(s).)
References: Nat Genet. 2014 Feb;46(2):116-25. (PMID: 24413735)
Nat Commun. 2016 Jun 06;7:11790. (PMID: 27265895)
J Clin Oncol. 2018 Apr 20;36(12):1240-1249. (PMID: 29498923)
J Clin Oncol. 2019 Jan 20;37(3):239-253. (PMID: 30523709)
Blood Cancer Discov. 2021 Jul;2(4):326-337. (PMID: 34250504)
Blood. 2008 Jan 1;111(1):387-91. (PMID: 17940204)
Leukemia. 2014 Jan;28(1):70-7. (PMID: 24064621)
Blood. 2014 Aug 28;124(9):1434-44. (PMID: 24957142)
Nat Genet. 2016 Dec;48(12):1481-1489. (PMID: 27776115)
Haematologica. 2019 Jul;104(7):1407-1416. (PMID: 30630977)
Leukemia. 2022 Jul;36(7):1720-1748. (PMID: 35732829)
J Clin Oncol. 2018 Jan 1;36(1):34-43. (PMID: 29131699)
Leukemia. 2023 Mar;37(3):529-538. (PMID: 36550215)
Science. 2022 Apr;376(6588):44-53. (PMID: 35357919)
Blood Cancer Discov. 2020 Oct 15;1(3):221-223. (PMID: 34661146)
Lancet Oncol. 2014 Jul;15(8):809-18. (PMID: 24924991)
Br J Haematol. 2020 Dec;191(5):844-851. (PMID: 32926422)
Br J Haematol. 2010 Oct;151(2):132-42. (PMID: 20701601)
Nature. 2014 Apr 3;508(7494):98-102. (PMID: 24670643)
Leukemia. 2014 Jul;28(7):1467-71. (PMID: 24441288)
Haematologica. 2013 Jul;98(7):1081-8. (PMID: 23508010)
Leukemia. 2022 Jun;36(6):1492-1498. (PMID: 35351983)
N Engl J Med. 2015 Oct 15;373(16):1541-52. (PMID: 26465987)
Br J Haematol. 2005 May;129(4):520-30. (PMID: 15877734)
Leukemia. 2019 Aug;33(8):1881-1894. (PMID: 30816328)
Bioinformatics. 2016 Apr 15;32(8):1220-2. (PMID: 26647377)
Nat Genet. 2015 Apr;47(4):330-7. (PMID: 25730765)
Proc Natl Acad Sci U S A. 2018 Dec 11;115(50):E11711-E11720. (PMID: 30487223)
Bioinformatics. 2016 Aug 1;32(15):2375-7. (PMID: 27153601)
Genes Chromosomes Cancer. 2010 Dec;49(12):1104-13. (PMID: 20815030)
Haematologica. 2019 Oct;104(10):e455-e459. (PMID: 30872366)
Haematologica. 2017 Jan;102(1):118-129. (PMID: 27634205)
Nat Genet. 2019 Feb;51(2):296-307. (PMID: 30643249)
Haematologica. 2015 Sep;100(9):e354-7. (PMID: 26045294)
N Engl J Med. 2021 Mar 11;384(10):924-935. (PMID: 33704937)
Lancet Haematol. 2021 Jan;8(1):e55-e66. (PMID: 33357483)
Lancet Oncol. 2013 Mar;14(3):199-209. (PMID: 23395119)
Nat Genet. 2022 Sep;54(9):1376-1389. (PMID: 36050548)
Semin Cancer Biol. 2022 Sep;84:16-22. (PMID: 34119643)
Nat Commun. 2016 Nov 08;7:13331. (PMID: 27824051)
Blood Adv. 2021 Dec 14;5(23):5226-5238. (PMID: 34547766)
Br J Haematol. 2022 Feb;196(3):753-763. (PMID: 34676543)
Haematologica. 2020 Jul;105(7):1887-1894. (PMID: 31601692)
N Engl J Med. 2014 Sep 11;371(11):1005-15. (PMID: 25207766)
Front Med (Lausanne). 2022 Mar 24;9:842507. (PMID: 35402448)
معلومات مُعتمدة: 27193 United Kingdom CRUK_ Cancer Research UK; C60802/A27193 United Kingdom CRUK_ Cancer Research UK
تواريخ الأحداث: Date Created: 20230119 Date Completed: 20230309 Latest Revision: 20240210
رمز التحديث: 20240210
مُعرف محوري في PubMed: PMC9991920
DOI: 10.1038/s41375-022-01806-8
PMID: 36658389
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-5551
DOI:10.1038/s41375-022-01806-8