Gene expression profiling suggests that Gata2, a hematopoietic transcription factor, is a top upregulated gene in preleukemic Cbfb-MYH11 knockin mice and is expressed in human inv(16) AML.
We here describe a unique case of de novo AML-M1, with inv(16)(p13q22), leading to an unusual CBFB-MYH11 fusion transcript, and der(7)t(7;11)(q31;q21).
The inv(16) acute myeloid leukemia-associated CBFβ-MYH11 fusion is proposed to block normal myeloid differentiation, but whether this subtype of leukemia cells is poised for a unique cell lineage remains unclear.
Patients with low expression level of miR-500 (miR-500<sub>low</sub>) were significantly more likely to present with a French-American-British classification M2 subtype (P=0.003), and less likely to have the M5 subtype (P=0.040) compared with patients with high expression levels (miR-500<sub>high</sub>). miR-500<sub>low</sub> patients were associated with low-risk AML (P=0.003) and core-binding factor subunit b-myosin heavy chain 11 translocation mutation (P=0.021).
CBFB rearrangement, particularly CBFB-MYH11 fusion resulting from inv(16)(p13.1q22) or t(16;16)(p13.1;q22), is an acute myeloid leukemia (AML)-defining alteration that is associated with a favorable outcome.
Myeloid neoplasms with isolated del(16q) with deletion of the CBFB but lacking CBFB-MYH11 rearrangement should not be considered a variant of the AML-defining inv(16).
Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex.
Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex.
CpG-STAT3dODN effectively reducedCbfb/MYH11/MplAML burden in various organs and eliminated leukemia stem/progenitor cells, mainly through CD8/CD4 T-cell-mediated immune responses.
In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22) and/or the corresponding molecular rearrangements RUNX1/RUNX1T1 and CBFB/MYH11 [collectively referred to as core binding factor (CBF) AML] predict for a more favourable outcome in patients receiving cytarabine-anthracycline based induction and upon achievement of complete remission, high-dose cytarabine consolidation chemotherapy.
Eighty-six adult patients with inv(16) acute myeloid leukemia (AML) in first complete remission (CR1) were serially monitored for CBFB-MYH11 transcript levels during the early courses of chemotherapy.
We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant.
Although several cooperative and exclusive mutation patterns were observed, the accumulated mutation number was higher in cytogenetically normal AML and lower in AML with RUNX1-RUNX1T1 and CBFB-MYH11, indicating a strong potential of these translocations for the initiation of AML.
Here, we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement that is associated with genes previously described as upregulated in inv(16) AML.
In this study, we evaluated the impact of secondary genetic lesions in acute myeloid leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11.