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==Genomic Location==
==Genomic Location==
'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
'''Cytoband:''' 17q21.2
'''Genomic Coordinates:'''
'''Genomic Coordinates:'''
Put your text here
Put your text here
chr17:38,465,423-38,513,895(GRCh37/hg19)
chr17:40,309,171-40,357,643(GRCh38/hg38)
==Cancer Category/Type==
==Cancer Category/Type==
Based on the early French-American-British (FAB) classification, acute promyelocytic leukaemia (APL) is one of the subtypes (M3) of acute myeloid leukemia AML [1].
[http://www.ccga.io/index.php/Acute_Promyelocytic_Leukemia_(APL)_with_PML-RARA Acute Promyelocytic Leukemia (APL) with PML-RARA]
[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]
The PML-RARA fusion is reported to be found in 5-15% of AML, may occur at any age, but predominantly in adult in mid-life [1, 2]. RARA fusion proteins behave as potent transcriptional repressors of retinoic acid signalling, inducing a differentiation blockage at the promyelocyte stage which can be overcome with therapeutic doses of ATRA or arsenic trioxide [3].
==Gene Overview==
==Gene Overview==
==Common Alteration Types==
==Common Alteration Types==
The translocation involving PML and RARA are found in more than 90% of cases of APL. Other fusion partners to RARA found in APL include PZLF, NPM, NuMA, STAT5b and BCOR. These rarer fusion genes account for around 5% of the total found in APL. Patients with these different fusion genes show different clinical responses to ATRA treatment. PZLF-RARA and STAT5b-RARA cases were refractory to ATRA, whereas NPM-RARA and NuMA-RARA were reported to be responsive. BCOR-RARA was also responsive to ATRA but carries a higher risk of relapse [4]
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2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
3. DeBraekeleer, E. (2014). RARA fusion genes in acute promyelocytic leukemia: a review. Expert Rev Hematol. 7: 347-57. PMID 24720386 DOI: 10.1586/17474086.2014.903794
4. Ng C.H. and Chng W.J. (2017). Recent advances in acute promyelocytic leukaemia. F1000Res. 6:1273. PMID 28794865 DOI: 10.12688/f1000research.10736.1
== Notes ==
== Notes ==