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==Primary Author(s)*==
==Primary Author(s)*==
Brian Davis, PhD
Brian Davis, PhD, MindFull Informatics LLC
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__TOC__
==Cancer Category/Type==
==Cancer Category/Type==
*'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
*'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
--- '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
--- '''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_RUNX1::RUNX1T1_fusion Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
--- '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_Mutated_RUNX1 Acute Myeloid Leukemia (AML) with Mutated RUNX1]'''
--- '''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_with_Mutated_RUNX1 Acute Myeloid Leukemia (AML) with Mutated RUNX1]'''
The frequency of ''RUNX1'' mutations is between 5-18% of all AML patients tested [3]. The most common chromosomal translocation is t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion in ''de novo'' AML, at approximately 7% [2,6]. This translocation confers a favorable prognosis in AML and other neoplasms [2,5,6]. Another ''RUNX1'' alteration is the t(3;21)(q26;q22), in which the RUNT domain of ''RUNX1'' is fused to the entire ''EVI1'' gene. This translocation is rarely found in patients diagnosed with ''de novo'' AML and is more common in those with therapy-related myelodysplastic syndrome (MDS)/AML [9]. Other mutations in ''RUNX1'' include deletions, missense, splicing, frameshift, and nonsense alterations (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 ''RUNX1'' mutations is between 5-18% of all AML patients tested [3]. The most common chromosomal translocation is t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion in ''de novo'' AML, at approximately 7% [2,6]. This translocation confers a favorable prognosis in AML and other neoplasms [2,5,6]. Another ''RUNX1'' alteration is the t(3;21)(q26;q22), in which the RUNT domain of ''RUNX1'' is fused to the entire ''EVI1'' gene. This translocation is rarely found in patients diagnosed with ''de novo'' AML and is more common in those with therapy-related myelodysplastic syndrome (MDS)/AML [9]. Other mutations in ''RUNX1'' include deletions, missense, splicing, frameshift, and nonsense alterations (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].
--- '''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_RUNX1_Mutation Myeloid Neoplasms with Germline Predisposition]'''
*'''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_Predisposition Myeloid Neoplasms with Germline Predisposition]'''
--- '''[http://www.ccga.io/index.php/HAEM4:Myeloid_Neoplasms_with_Germline_RUNX1_Mutation Myeloid Neoplasms with Germline RUNX1 Mutation]'''
==Internal Pages==
==Internal Pages==
[[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]]
'''[[HAEM5:Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion]]'''
[[Acute Myeloid Leukemia (AML) with Mutated RUNX1]]
'''[[HAEM4:Acute Myeloid Leukemia (AML) with Mutated RUNX1]]'''
'''[[HAEM4:Myeloid Neoplasms with Germline RUNX1 Mutation]]'''
==External Links==
==External Links==
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=RUNX1 ''RUNX1'' by TICdb]''' - database of Translocation breakpoints In Cancer
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=RUNX1 ''RUNX1'' by TICdb]''' - database of Translocation breakpoints In Cancer
RUNX1 by LOVD3
==References==
==References==
<references />
1. Trippier PC, (2017). Small molecule inhibitors for acute myeloid leukemia: where is the field heading? Future Med Chem 13:1453-1456, PMID 28795593. doi: 10.4155/fmc-2017-0114.
1. Trippier PC, (2017). Small molecule inhibitors for acute myeloid leukemia: where is the field heading? Future Med Chem 13:1453-1456, PMID 28795593. doi: 10.4155/fmc-2017-0114.