Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inversion of chromosome 16 (inv(16)) generates a fusion gene CBFB-MYH11, which is a driver mutation for acute myeloid leukemia (AML).
|
31624376 |
2020 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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).
|
31353165 |
2020 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AML with CBFB-MYH11, RUNX1-RUNX1T1, mutated NPM1, and FLT3-ITD were excluded and accrued to genotype-specific trials.
|
30728457 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
30850577 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Ninety acute myeloid leukemia (AML) patients with inv(16) were monitored CBFβ/MYH11 transcript around allogeneic hematopoietic stem cell transplantation (allo-HSCT).
|
30159599 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A common mutation in AML is the inversion of chromosome 16 [inv (16)], which generates a fusion between the genes for core binding factor beta (<i>CBFB)</i> and smooth muscle myosin heavy chain gene (<i>MYH11</i>), forming the oncogene <i>CBFB-MYH11</i>.
|
30814129 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders.
|
28299658 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
At univariate analysis for CR achievement, age < 60 years (P < .001), World Health Organization classification (P = .045), low-risk karyotype (P < .001), no high-risk karyotype (P = .006), positivity for AML-ETO (P = .004)/CBFβ-MYH11 (P = .003)/CD15 (P = .006)/CD11b (P = .013), negativity for FLT3-ITD (P = .001), Hb > 8 g/dL (P = .020), and white blood cell < 50 × 10<sup>9</sup> /L (P = .034) had a favorable impact.
|
27400753 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Molecular Basis and Targeted Inhibition of CBFβ-SMMHC Acute Myeloid Leukemia.
|
28299661 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
This general method can also be applied to other AML-associated fusion transcripts such as CBFB-MYH11 and RUNX1-RUNX1T1.
|
28735486 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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).
|
28375434 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
28253536 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Targeting binding partners of the CBFβ-SMMHC fusion protein for the treatment of inversion 16 acute myeloid leukemia.
|
27542261 |
2016 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
CTD_human |
Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs 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.
|
27798625 |
2016 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that p53 activity is inhibited in inv(16)(+) AML LSCs via interactions with the CBFβ-SMMHC (CM) fusion protein and histone deacetylase 8 (HDAC8).
|
26387755 |
2015 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
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.
|
25804769 |
2015 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
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.
|
25266220 |
2014 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We confirmed this finding in Mll-Af9 knock-in mice and human M4/M5 acute myeloid leukemia (AML) cell lines, with or without MLL translocations, showing that MLL translocations cause a hypomorph phenotype of RUNX1/CBFβ.
|
24449215 |
2014 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
24342433 |
2014 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
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.
|
24487413 |
2014 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acute myeloid leukemia with cryptic CBFB-MYH11 type D.
|
23236551 |
2013 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
23115274 |
2013 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
|
23160462 |
2013 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The C-terminus of CBFβ-SMMHC, the fusion protein produced by a chromosome 16 inversion in acute myeloid leukemia subtype M4Eo, contains domains for self-multimerization and transcriptional repression, both of which have been proposed to be important for leukemogenesis by CBFβ-SMMHC.
|
23152542 |
2013 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The t(8;21) and inv(16)/t(16;16) rearrangements affecting the core-binding factors RUNX1 and CBFB, respectively, are found in 15% to 20% of adult de novo acute myeloid leukemia (AML) cases and are associated with a favorable prognosis.
|
23878140 |
2013 |