National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Acute promyelocytic leukemia


Other Names:
Acute myeloblastic leukemia type 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3; Acute myeloblastic leukemia type 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML See More
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This disease is grouped under:
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]
Last updated: 1/18/2017

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Anorexia 0002039
Bone marrow hypercellularity 0031020
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Chronic infection 0031035
Disseminated intravascular coagulation 0005521
Ecchymosis 0031364
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Exertional dyspnea 0002875
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Gingival bleeding
Bleeding gums
0000225
Leukopenia
Decreased blood leukocyte number
Low white blood cell count
[ more ] 		0001882
Muscle weakness
Muscular weakness
0001324
Pancytopenia
Low blood cell count
0001876
Petechiae 0000967
Thrombocytopenia
Low platelet count
0001873
Vertigo
Dizzy spell
0002321
Weight loss 0001824
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Alcoholism 0030955
Bone pain 0002653
Diffuse alveolar hemorrhage 0025420
Gingival overgrowth
Gum enlargement
0000212
Hypofibrinogenemia 0011900
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Lymphadenopathy
Swollen lymph nodes
0002716
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Oral cavity bleeding
Bleeding from mouth
0030140
Productive cough
Wet cough
0031245
Stomatitis
Inflammation of the mouth
0010280
1%-4% of people have these symptoms
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Hematuria
Blood in urine
0000790
Metrorrhagia
Abnormal uterus bleeding
0100608
Percent of people who have these symptoms is not available through HPO
Abnormal granulocytopoietic cell morphology 0012135
Acute promyelocytic leukemia 0004836
Somatic mutation 0001428
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Last updated: 7/1/2020
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]
Last updated: 1/18/2017
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.[2]
Last updated: 1/18/2017
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.
Last updated: 1/18/2017

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.
Last updated: 1/18/2017

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
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.[8]
Last updated: 1/18/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes the other subtypes of AML.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Acute promyelocytic leukemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My husband passed away rather suddenly from APL in 2009. I was reading that the translocation occurs after conception. I have two young boys and although I know it is not inherited, I would like to know if there is a way to test if the translocation has occurred. See answer

  • I was diagnosed with acute promyelocytic leukemia 5 years ago. I have relapsed two times and have been on arsenic treatment since September 2010. My doctors don't know how to continue with my treatment as arsenic is not a controlled drug in Ireland. Can you provide me with information about treatment for this condition? See answer


  1. General Information About Adult Myeloid Leukemia. National Cancer Institute (NCI). July 28, 2016; http://www.cancer.gov/cancertopics/pdq/treatment/adultAML/Patient#Keypoint2.
  2. Acute promyelocytic leukemia. Genetics Home Reference (GHR). April 2011; http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia.
  3. Iacoboni G, Sanz M. Acute promyelocytic leukemia. Orphanet. July 2014; http://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; http://www.geneticalliance.org.uk/information/services-and-testing/predictive-testing/.
  6. Treatment of acute promyelocytic (M3) leukemia. American Cancer Society. December 9, 2014; http://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; http://www.cancer.org/cancer/acute-myeloid-leukemia/treating/recurrence.html.
  8. Kotiah SD, Besa EC. Acute Promyelocytic Leukemia. Medscape. May 7, 2015; http://emedicine.medscape.com/article/1495306-overview.