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Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming cells (promyelocytes) in the blood and bone marrow. This build up of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body. The signs and symptoms of APL include an increased risk to both bleed and form blood clots. Individuals may also experience excessive tiredness, pain in affected areas, loss of appetite, and weight loss. APL usually occurs in middle-aged adults, but can be diagnosed at any age. It is caused by a mutation that is acquired over a person's lifetime, usually involving a translocation between chromosomes 15 and 17. Treatment may include the use of all-trans retinoic acid (ATRA) and arsenic trioxide or anthracycline-based chemotherapy.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO). The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Showing 1-5 of 37:
- • Anemia
- • Anorexia
- • Bone marrow hypercellularity
- • Bruising susceptibility
- • Chronic infection
Cause
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.
Inheritance
APL is not inherited. The condition arises from a translocation in some of the body's cells (somatic cells) that occurs after conception. This is referred to as a somatic mutation. Somatic mutations may affect the individual by causing cancers or other diseases, but they are not passed on to offspring.
Diagnosis
We were unable to locate information about the availability of predictive testing for APL. Predictive genetic testing is primarily an option for individuals at risk for inherited cancers and other inherited disorders; APL is not an inherited cancer. Predictive genetic tests are generally available if a close family member has had a genetic test which has identified a specific mutation that is associated with an inherited predisposition to cancer. APL is caused by a somatic mutation which is acquired during a person's lifetime and is not passed on to children. Furthermore, it is not necessarily known when during a person's lifetime a somatic mutation might occur.
Testing Resources
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Most cases of APL are treated with an anthracycline chemotherapy drug (daunorubicin or idarubicin) plus the non-chemotherapy drug, all-trans-retinoic acid (ATRA), which is a relative of vitamin A. This treatment leads to remission in 80% to 90% of patients.
Patients who cannot tolerate an anthracycline drug may get ATRA plus another drug called arsenic trioxide. Arsenic trioxide has also proven to be an effective alternative for the 20% to 30% of patients with APL who don't respond to initial treatment or who relapse. If treatment with arsenic trioxide achieves a remission, further courses of this drug may be given. A stem cell transplant may also be an option. If a second remission is not achieved, treatment options may include a stem cell transplant or taking part in a clinical trial.
Statistics
APL accounts for about 5-15% of all adult leukemias. There are approximately 30,800 cases of acute leukemia diagnosed yearly; about 1000 of these are acute promyelocytic leukemia.
2024-06-08
