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'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
The frequency of mutations in RUNX1 mutations has been found to be between 5-18% of all Acute Myeloid Leukemia patients tested (3). The most common chromosomal translocations is t(8;21)(q22;q22) (RUNX1-RUNX1T1) in de novo AML, at approximately 7% (2, 6). This translocation confers a favorable prognosis in AML and other neoplasms (2, 5, 6). Other mutations in RUNX1 include deletions, missense, splicing, frameshift, and nonsense mutations (mostly loss of function or decreased function) and occur at a frequency of approximately 10% in AML patients (6). These mutations are mechanistically distinct from the chromosomal translocations and confer a worse prognosis (2, 5, 6)
The frequency of mutations in ''RUNX1'' mutations has been found to be between 5-18% of all Acute Myeloid Leukemia patients tested [3]. The most common chromosomal translocation is t(8;21)(q22;q22)(RUNX1-RUNX1T1) in ''de novo'' AML, at approximately 7% [2,6]. This translocation confers a favorable prognosis in AML and other neoplasms [2,5,6]. Other mutations in ''RUNX1'' include deletions, missense, splicing, frameshift, and nonsense mutations (mostly loss of function or decreased function), and occur at a frequency of approximately 10% in AML patients [6]. These mutations are mechanistically distinct from the chromosomal translocations and confer a worse prognosis [2,5,6].
'''Acute Lymphocytic Leukemia (ALL)'''
'''Acute Lymphocytic Leukemia (ALL)'''
iAMP21 is an intrachromosomal amplification of Chromosome 21 which includes the genes RUNX1, miR-802 among others. This amplification occurs in about 1.5-2% of all Acute Lymphocytic Leukemia cases tested and is associated with poor prognostication (5).
iAMP21 is an intrachromosomal amplification of Chromosome 21 which includes the genes RUNX1, miR-802 among others. This amplification occurs in about 1.5-2% of all Acute Lymphocytic Leukemia cases tested and is associated with poor prognostication [5].
'''[http://www.ccga.io/index.php/T-ALL T-cell Acute Lymphocytic Leukemia (T-ALL)]'''
'''[http://www.ccga.io/index.php/T-ALL T-cell Acute Lymphocytic Leukemia (T-ALL)]'''
RUNX1 mutations have bee described in 20% of patients with early T-cell precursor acute lymphoblastic leukemia (ETP-ALL)(6).
''RUNX1'' mutations have bee described in 20% of patients with early T-cell precursor acute lymphoblastic leukemia (ETP-ALL)[6].
'''B-cell Acute Lymphocytic Leukemia (B-ALL)'''
'''B-cell Acute Lymphocytic Leukemia (B-ALL)'''
The 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 Pediatric B-ALL but only 2% of Adult B-ALL (5, 6). This translocation confers a favorable prognosis in B-ALL and other neoplasms (2, 5, 6). iAMP21 is an intrachromosomal amplification of Chromosome 21 which includes the genes RUNX1, miR-802 among others. This amplification occurs in about 2% of all B-cell Acute Lymphocytic Leukemia cases tested and is associated with poor prognostication (6).
The most common chromosomal translocations is t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion in B-cell acute lymphocytic leukemia (B-ALL) [2]. This translocation occurs in 25% of Pediatric B-ALL but only 2% of Adult B-ALL [5, 6], and confers a favorable prognosis in B-ALL and other neoplasms [2,5,6]. iAMP21 is an intrachromosomal amplification of chromosome 21 which includes the genes ''RUNX1'' and ''miR-802'' among others. This amplification occurs in about 2% of all B-cell Acute Lymphocytic Leukemia cases tested and is associated with poor prognostication [6].
'''Chromic Myeloid Leukemia (CML)'''
'''Chromic Myeloid Leukemia (CML)'''
A number of simple mutations have been reported in CML patients, and these mutations may be in part responsible for progression from the chronic phase to blast crisis (BC) (7).
A number of simple mutations have been reported in CML patients, and these mutations may be in part responsible for progression from the chronic phase to blast crisis (BC) [7].
'''Myelodysplastic Syndrome (MDS)'''
'''Myelodysplastic Syndrome (MDS)'''
A high frequency (42%) of AML1 mutations has been reported among radiation-associated and therapy-related Myelodysplastic Syndrome (MDS) patients (8).
A high frequency (42%) of ''RUNX1'' mutations has been reported among radiation-associated and therapy-related Myelodysplastic Syndrome (MDS) patients [8].
'''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)'''
Germ line mutations of RUNX1 have been reportedr in the rare autosomal dominant disease Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) (8).
Germ line mutations of ''RUNX1'' have been reported in the rare autosomal dominant Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) [8].
==Gene Overview==
==Gene Overview==