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Concept
Acute promyelocytic leukemia
Summary
Acute promyelocytic leukemia (APML, APL) is a subtype of acute myeloid leukemia (AML), a cancer of the white blood cells. In APL, there is an abnormal accumulation of immature granulocytes called promyelocytes. The disease is characterized by a chromosomal translocation involving the retinoic acid receptor alpha (RARA) gene and is distinguished from other forms of AML by its responsiveness to all-trans retinoic acid (ATRA; also known as tretinoin) therapy. Acute promyelocytic leukemia was first characterized in 1957 by French and Norwegian physicians as a hyperacute fatal illness, with a median survival time of less than a week. Today, prognoses have drastically improved; 10-year survival rates are estimated to be approximately 80-90% according to one study.
The symptoms tend to be similar to AML in general with the following being possible symptoms:
Anemia
Fatigue
Weakness
Chills
Depression
Difficulty breathing (dyspnea)
Low platelets (thrombocytopenia) leading to easy bleeding
Fever
Infection as a result of low neutrophils (neutropenia)
Elevated white blood cells (leukocytosis)
Coagulopathy (including disseminated intravascular coagulation)
Bicytopenia
Easy bleeding from low platelets may include:
Bruising (ecchymosis)
Gingival bleeding
Nose bleeds (epistaxis)
Bleeding from the gums
Increased menstrual bleeding (menorrhagia)
Brain bleed (intracerebral hemorrhage)
Acute promyelocytic leukemia is characterized by a chromosomal translocation involving the retinoic acid receptor alpha (RARA) gene on chromosome 17. In 95% of cases of APL, the RARA gene on chromosome 17 is involved in a reciprocal translocation with the promyelocytic leukemia gene (PML) on chromosome 15, a translocation denoted as t(15;17)(q22;q21). The RAR receptor is dependent on retinoic acid for regulation of transcription.
Eight other rare gene rearrangements have been described in APL fusing RARA to promyelocytic leukemia zinc finger (PLZF), nucleophosmin, nuclear matrix associated, signal transducer and activator of transcription 5b (STAT5B), protein kinase A regulatory subunit 1α (PRKAR1A), factor interacting with PAPOLA and CPSF1 (FIP1L1), BCL-6 corepressor or oligonucleotide/oligosaccharide-binding fold containing 2A (NABP1) genes.
Official source
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