Line 21: |
Line 21: |
| ==Cancer Category/Type== | | ==Cancer Category/Type== |
| | | |
− | '''[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 AML 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]. | | The frequency of mutations in ''RUNX1'' mutations has been found to be between 5-18% of all AML 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) 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]. | | 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 ''RUNX1'' 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 reported in the rare autosomal dominant 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]. |