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Disease Profile

Acute promyelocytic leukemia

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Acute myeloblastic leukemia type 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3;


Blood Diseases; Rare Cancers


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.[1][2] 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.[2] Treatment may include the use of all-trans retinoic acid (ATRA) and arsenic trioxide or anthracycline-based chemotherapy.[3][4]


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.

Medical Terms Other Names
Learn More:
30%-79% of people have these symptoms
Low number of red blood cells or hemoglobin
Bone marrow hypercellularity
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

Chronic infection
Disseminated intravascular coagulation
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding

[ more ]

Exertional dyspnea

[ more ]

Gingival bleeding
Bleeding gums
Decreased blood leukocyte number
Low white blood cell count

[ more ]

Muscle weakness
Muscular weakness
Low blood cell count
Low platelet count
Dizzy spell
Weight loss
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

Bone pain
Diffuse alveolar hemorrhage
Gingival overgrowth
Gum enlargement
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

Swollen lymph nodes
Low blood neutrophil count
Low neutrophil count

[ more ]

Oral cavity bleeding
Bleeding from mouth
Productive cough
Wet cough
Inflammation of the mouth
1%-4% of people have these symptoms
Death of body tissue due to lack of blood flow or infection
Blood in urine
Abnormal uterus bleeding
Percent of people who have these symptoms is not available through HPO
Abnormal granulocytopoietic cell morphology
Acute promyelocytic leukemia
Somatic mutation


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.[2]


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.[5] APL is caused by a somatic mutation which is acquired during a person's lifetime and is not passed on to children.[2] Furthermore, it is not necessarily known when during a person's lifetime a somatic mutation might occur.

Individuals that are interested in learning more about predictive testing for a particular type of cancer should speak with a genetics professional.

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.


    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.[6]

    Patients who cannot tolerate an anthracycline drug may get ATRA plus another drug called arsenic trioxide.[6] 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.[7]

    Additional information related to treatment of acute promyelocytic leukemia can be accessed through Medscape. This includes detailed information related to the use of arsenic trioxide.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Arsenic trioxide(Brand name: Trisenox) Manufactured by Cephalon
      FDA-approved indication: In combination with tretinoin for treatment of adults with newly-diagnosed low-risk acute promyelocytic leukemia (APL) whose APL is characterized by the presence of the t(15;17). Also approved for induction of remission and consolidation in patients with acute promyelocytic leukemia (APL) who are refractory to, or have relapsed from, retinoid and anthracycline chemotherapy, and whose APL is characterized by the presence of the t(15;17) translocation.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Tretinoin(Brand name: Vesanoid®) Manufactured by Roche Pharmaceuticals
      FDA-approved indication: Induction of remission in patients with acute promyelocytic leukemia who are refractory to or unable to tolerate anthracycline based cytotoxic chemotherapeutic regimens.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • Genetics Home Reference (GHR) contains information on Acute promyelocytic leukemia. This website is maintained by the National Library of Medicine.
        • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Acute promyelocytic leukemia. Click on the link to view a sample search on this topic.


            1. General Information About Adult Myeloid Leukemia. National Cancer Institute (NCI). July 28, 2016; https://www.cancer.gov/cancertopics/pdq/treatment/adultAML/Patient#Keypoint2.
            2. Acute promyelocytic leukemia. Genetics Home Reference (GHR). April 2011; https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia.
            3. Iacoboni G, Sanz M. Acute promyelocytic leukemia. Orphanet. July 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520.
            4. Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version. National Cancer Institute. July 28, 2016; https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq#section/all.
            5. Predictive Testing. Genetic Alliance UK. July 21, 2016; https://www.geneticalliance.org.uk/information/services-and-testing/predictive-testing/.
            6. Treatment of acute promyelocytic (M3) leukemia. American Cancer Society. December 9, 2014; https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/m3-leukemia.html.
            7. What if the leukemia doesn`t respond or comes back after treatment?. American Cancer Society. December 9, 2014; https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/recurrence.html.
            8. Kotiah SD, Besa EC. Acute Promyelocytic Leukemia. Medscape. May 7, 2015; https://emedicine.medscape.com/article/1495306-overview.

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