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| ==Cancer Category/Type== | | ==Cancer Category/Type== |
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− | Acute Myeloid Leukemia (AML); | + | '''Acute Myeloid Leukemia (AML);''' |
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| The most common chromosomal translocations is t(8;21)(q22;q22) in de novo AML (2) RUNX1-RUNX1T1. translocations confer a favorable prognosis in their respective diseases (2) | | The most common chromosomal translocations is t(8;21)(q22;q22) in de novo AML (2) RUNX1-RUNX1T1. translocations confer a favorable prognosis in their respective diseases (2) |
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− | inv(16)(p13;q22) or t(16)(p13;q22), which disrupt CBFB the non-DNA-binding partner of RUNX1: also translocation confer a favorable prognosis in their respective diseases (2) | + | inv(16)(p13;q22) or t(16)(p13;q22), which disrupt CBFB the non-DNA-binding partner of RUNX1 and the MYH11 gene: also translocation confer a favorable prognosis in their respective diseases (2) |
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| Mono- and biallelic mutations in RUNX1 include deletions, missense, splicing, frameshift, and nonsense mutations. These mutations are mechanistically distinct from the chromosomal translocations and confer a worse prognosis (2) | | Mono- and biallelic mutations in RUNX1 include deletions, missense, splicing, frameshift, and nonsense mutations. These mutations are mechanistically distinct from the chromosomal translocations and confer a worse prognosis (2) |
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− | T-cell Acute Lymphocytic Leukemia (B-ALL) | + | '''T-cell Acute Lymphocytic Leukemia (B-ALL)''' |
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| + | '''B-cell Acute Lymphocytic Leukemia (B-ALL)''' |
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− | B-cell Acute Lymphocytic Leukemia (B-ALL) most common chromosomal translocations is t(12;21)(p13;q22) in acute lymphocytic leukemia (B-ALL) (2) ETV6-RUNX1. translocation confer a favorable prognosis in their respective diseases(2)
| + | most common chromosomal translocations is t(12;21)(p13;q22) (ETV6-RUNX1) in B-cell acute lymphocytic leukemia (B-ALL) (2). This translocation occurs in 25% of Pediatic B-ALL but only 2% of Adult B-ALL ( translocation confer a favorable prognosis in their respective diseases(2) |
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− | Chromic Myeloid Leukemia (CML) | + | '''Chromic Myeloid Leukemia (CML)''' |
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− | Myelodysplastic Syndrome (MDS) | + | '''Myelodysplastic Syndrome (MDS)''' |
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− | CCUS or ICUS | + | '''CCUS or ICUS''' |
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| RUNX1 mutations are more common in clonal cytopenia of undetermined significance (CCUS) (2) | | RUNX1 mutations are more common in clonal cytopenia of undetermined significance (CCUS) (2) |
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− | Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) | + | '''Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)''' |
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− | From Wang et al. 2017RUNX1 mutations are present in 5% to 18% of AML [59–62]. They are associated with ASXL1 [59], MLLPTD [62], and IDH1/IDH2 mutations [62] and are essentially mutually exclusive of NPM1 mutations [59, 62]. RUNX1 mutations were found to be associated with resistance to chemotherapy, inferior DFS, EFS [59, 61, 62], and OS [59–62]. More importantly, RUNX1 mutations were deemed to be an independent prognostic marker for shorter EFS in multivariable analysis [62]. An explorative subgroup analysis demonstrated that RUNX1-mutated AML patients benefited from allo-HSC in terms of RFS [62]. | + | From Wang et al. 2017. RUNX1 mutations are present in 5% to 18% of AML [59–62]. They are associated with ASXL1 [59], MLLPTD [62], and IDH1/IDH2 mutations [62] and are essentially mutually exclusive of NPM1 mutations [59, 62]. RUNX1 mutations were found to be associated with resistance to chemotherapy, inferior DFS, EFS [59, 61, 62], and OS [59–62]. More importantly, RUNX1 mutations were deemed to be an independent prognostic marker for shorter EFS in multivariable analysis [62]. An explorative subgroup analysis demonstrated that RUNX1-mutated AML patients benefited from allo-HSC in terms of RFS [62]. |
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| ==Gene Overview== | | ==Gene Overview== |