| 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 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) |
| 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). |