Changes

157 bytes added ,  16:37, 28 June 2018
Line 21: Line 21:  
==Cancer Category/Type==
 
==Cancer Category/Type==
   −
Acute Myeloid Leukemia (AML);  
+
'''Acute Myeloid Leukemia (AML);'''
 +
 
 
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)  
   −
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)
    
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)
   −
T-cell Acute Lymphocytic Leukemia (B-ALL)
+
'''T-cell Acute Lymphocytic Leukemia (B-ALL)'''
 +
 
 +
'''B-cell Acute Lymphocytic Leukemia (B-ALL)''' 
   −
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)
   −
Chromic Myeloid Leukemia (CML)
+
'''Chromic Myeloid Leukemia (CML)'''
   −
Myelodysplastic Syndrome (MDS)
+
'''Myelodysplastic Syndrome (MDS)'''
   −
CCUS or ICUS
+
'''CCUS or ICUS'''
    
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)
   −
Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)
+
'''Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)'''
   −
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].
    
==Gene Overview==
 
==Gene Overview==
436

edits