Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia
© 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..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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| Enthalten in: |
Blood advances - 7(2023), 15 vom: 08. Aug., Seite 3862-3873 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Leongamornlert, Daniel [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 28.07.2023 Date Revised 28.02.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1182/bloodadvances.2022008992 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM353734764 |
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| 100 | 1 | |a Leongamornlert, Daniel |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia |
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| 500 | |a Date Revised 28.02.2024 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 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. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 700 | 1 | |a Gutiérrez-Abril, Jesús |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, SooWah |e verfasserin |4 aut | |
| 700 | 1 | |a Barretta, Emilio |e verfasserin |4 aut | |
| 700 | 1 | |a Creasey, Thomas |e verfasserin |4 aut | |
| 700 | 1 | |a Gundem, Gunes |e verfasserin |4 aut | |
| 700 | 1 | |a Levine, Max F |e verfasserin |4 aut | |
| 700 | 1 | |a Arango-Ossa, Juan E |e verfasserin |4 aut | |
| 700 | 1 | |a Liosis, Konstantinos |e verfasserin |4 aut | |
| 700 | 1 | |a Medina-Martinez, Juan S |e verfasserin |4 aut | |
| 700 | 1 | |a Zuborne Alapi, Krisztina |e verfasserin |4 aut | |
| 700 | 1 | |a Kirkwood, Amy A |e verfasserin |4 aut | |
| 700 | 1 | |a Clifton-Hadley, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Patrick, Pip |e verfasserin |4 aut | |
| 700 | 1 | |a Jones, David |e verfasserin |4 aut | |
| 700 | 1 | |a O'Neill, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Butler, Adam P |e verfasserin |4 aut | |
| 700 | 1 | |a Harrison, Christine J |e verfasserin |4 aut | |
| 700 | 1 | |a Campbell, Peter |e verfasserin |4 aut | |
| 700 | 1 | |a Patel, Bela |e verfasserin |4 aut | |
| 700 | 1 | |a Moorman, Anthony V |e verfasserin |4 aut | |
| 700 | 1 | |a Fielding, Adele K |e verfasserin |4 aut | |
| 700 | 1 | |a Papaemmanuil, Elli |e verfasserin |4 aut | |
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