MEF2D-rearranged acute lymphoblastic leukemia resembles Burkitt lymphoma/leukemia

TCF3-HLF-Positive Acute Lymphoblastic Leukemia Resembling Burkitt Leukemia: Cell Morphologic and Immunophenotypic Findings

“…Among reported BL-like ALL cases, only t(1;19) is repeatedly found in gene analyses, indicating that it plays a critical role in ALL resembling BL. 3 The phenotype is also associated with approximately 85% event-free 5-year survival rates. 7 , 8 By contrast, childhood ALL harboring t(17;19) (q22;p13) translocation and TCF3-HLF fusion is extremely rare (< 0.5% of cases) but very aggressive and associated with a poor outcome.…”

“… 2 It is uncertain if true BL may be diagnosed without MYC translocations and hematologic cancers with BL morphology that lacked the typical BL immune phenotype or MYC rearrangement have been reported as BL-like ALL. 3 Therefore, patients with leukemia with BL morphology and no MYC rearrangement may be diagnosed as BL-like ALL, BL without MYC rearrangement, or BL with cryptic MYC rearrangement, on the basis of next-generation sequencing. 4 However, distinctions should be made because of differences in management and prognosis.…”

IDH1R132S‐mutated acute lymphoblastic leukaemia resembles Burkitt lymphoma/leukaemia via activating MYC

“…Up to now, at least 11 cases have been reported in the literature 3–9 . Previously, we also identified recurrent MEF2D rearrangements, including MEF2D–BCL9 and MEF2D–HNRNPUL1 , in BL‐like ALL 10 . To understand the genetic features of this BL‐like ALL patient, initially, a fusion gene screen and RNA sequencing were performed, but no driver fusion genes were found (Table SIII).…”

“…[3][4][5][6][7][8][9] Previously, we also identified recurrent MEF2D rearrangements, including MEF2D-BCL9 and MEF2D-HNRNPUL1, in BL-like ALL. 10 To understand the genetic features of this BL-like ALL patient, initially, a fusion gene screen and RNA sequencing were performed, but no driver fusion genes were found (Table SIII). Then, targeted exome sequencing was done and IDH1 R132S mutation was identified, while we also demonstrated that this mutation existed in the primary diagnosis (PD) sample but not in the CR sample (Fig 2A).…”