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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Acute promyelocytic leukemia


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Cause

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What causes acute promyelocytic leukemia?

Acute promyelocytic leukemia (APL) is caused by a chromosomal translocation (rearrangement of material) that occurs in some of the body's cells during a person's lifetime (a somatic mutation). The translocation involves the fusion of two genes: the PML gene on chromosome 15 and the RARA gene on chromosome 17.  The protein produced by this fusion is referred to as PML-RARα. The PML-RARα protein functions differently than what is typically produced by the normal PML and RARA genes. As a result of the abnormal function, blood cells become "stuck" at the promyelocyte stage and they proliferate (reproduce) abnormally. Excess promyelocytes then accumulate in the bone marrow, disrupting the formation of normal white blood cells and leading to APL. Translocations involving the RARA gene and other genes have been identified in only a few cases of APL.[1]
Last updated: 2/6/2012

References
  1. Acute promyelocytic leukemia. Genetics Home Reference. April 2011; http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia. Accessed 2/6/2012.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.