B/T Mixed Phenotype Acute Leukaemia Harbouring NUP98::BPTF Fusion

Background NUP98 :: BPTF rearranged (r) leukaemia is rare with only five reported cases, including acute myeloid leukemia and T‐lymphoblastic leukemia (T‐ALL). Results Herein, we report a case of NUP98::BPTF ‐r mixed phenotype acute leukemia (MPAL), B/T with T‐lineage‐predominance in a 15‐year‐old female. Cytogenetic and molecular studies revealed a t(11;17)(p15;q23)/ NUP98::BPTF fusion and cooperative gene alterations characteristic of T‐ALL ( NOTCH1 , FBXW7 , and PHF6 ). Our patient had a primary induction failure with T‐ALL‐directed chemotherapy and achieved complete remission following consolidation. Conclusion This is the first case study characterizing the clinicopathological and genomic features of B/T MPAL harboring NUP98::BPTF fusion and providing insights into molecular pathogenesis. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission.