T/myeloid mixed phenotype acute leukaemia harbouring TLX3::BCL11B with TLX3 activation.
Giovanni A BottenYuannyu ZhangFranklin FudaPrasad KoduruOlga K WeinbergTamra L SloneRuifang ZhengKathryn E DickersonJeffrey R GaganWeina ChenPublished in: British journal of haematology (2024)
T/myeloid mixed phenotype acute leukaemia (MPAL) is a rare aggressive acute leukaemia with poorly understood pathogenesis. Herein, we report two cases of T/myeloid MPAL harbouring BCL11B-associated structural variants that activate TLX3 (TLX3::BCL11B-TLX3-activation) by genome sequencing and transcriptomic analyses. Both patients were young males with extramedullary involvement. Cooperative gene alterations characteristic of T/myeloid MPAL and T-lymphoblastic leukaemia (T-ALL) were detected. Both patients achieved initial remission following lineage-matched ALL-based therapy with one patient requiring a lineage-switched myeloid-based therapy. Our study is the first to demonstrate the clinicopathological and genomic features of TLX3::BCL11B-TLX3-activated T/myeloid MPAL and provide insights into leukaemogenesis.
Keyphrases
- dendritic cells
- bone marrow
- acute myeloid leukemia
- end stage renal disease
- liver failure
- single cell
- ejection fraction
- chronic kidney disease
- newly diagnosed
- respiratory failure
- copy number
- peritoneal dialysis
- patient reported outcomes
- genome wide
- intensive care unit
- stem cells
- dna methylation
- disease activity
- patient reported
- cell fate