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Lookup NU author(s): Professor Anthony MoormanORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2024 The AuthorsBackground: Chromosome 21 is affected in ∼60% of paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) patients and includes somatic and constitutional gains, intrachromosomal amplification of chromosome 21 (iAMP21), and the translocation t(12;21) resulting in the ETV6::RUNX1 gene fusion. Methods: Since these numeric and structural chromosome 21 alterations are not targetable, we studied the type and frequency of yet-proven targetable events co-occurring with chromosome 21 alterations. Results: Among 307 primary paediatric BCP-ALL cases, JAK/STAT pathway lesions were most frequent in patients with constitutional gain of chromosome 21 (Down syndrome ALL; 35/71, 49%) and iAMP21 (9/22, 41%). RAS pathway lesions were most frequent in high hyperdiploidy (62/108, 57%) and FLT3 lesions were most frequent in iAMP21 (7/22, 32%). Virtually all cases expressed CD19 and CD22 at the cell surface. Positivity for CD20 surface expression ranged from 67% in iAMP21 (8/12) to 20% in ETV6::RUNX1 (26/129). Conclusion: Activated JAK/STAT, RAS or FLT3 signalling, and CD marker surface expression may provide targetable treatment options for the majority of chromosome 21-altered BCP-ALL cases.
Author(s): Michels N, Hormann FM, Boeree A, Sonneveld E, Moorman AV, Escherich G, Sutton R, Beverloo HB, Pieters R, Zwaan CM, den Boer ML, Boer JM
Publication type: Article
Publication status: Published
Journal: EJC Paediatric Oncology
Year: 2024
Volume: 3
Print publication date: 01/06/2024
Online publication date: 23/12/2023
Acceptance date: 20/12/2023
Date deposited: 30/04/2024
ISSN (electronic): 2772-610X
Publisher: Elsevier B.V.
URL: https://doi.org/10.1016/j.ejcped.2023.100140
DOI: 10.1016/j.ejcped.2023.100140
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