| Autor: |
Naomi Michels, Femke M. Hormann, Aurélie Boeree, Edwin Sonneveld, Anthony V. Moorman, Gabriele Escherich, Rosemary Sutton, H. Berna Beverloo, Rob Pieters, C. Michel Zwaan, Monique L. den Boer, Judith M. Boer |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
EJC Paediatric Oncology, Vol 3, Iss , Pp 100140- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2772-610X |
| DOI: |
10.1016/j.ejcped.2023.100140 |
| Popis: |
Background: 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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