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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.
Unknown
Age of onset
Childhood
ICD-10
C92.4
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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;
Categories
Blood Diseases; Rare Cancers
Summary
Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Anorexia | 0002039 | |
Bone marrow hypercellularity | 0031020 | |
Bruising |
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 | |
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 |
0012135 | |
Acute promyelocytic leukemia | 0004836 | |
0001428 |
Cause
Diagnosis
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.
Treatment
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
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
Related diseases
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.
|
Organizations
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
-
Leukemia and Lymphoma Society
3 International Drive, Suite 200
Rye Brook, NY 10573
Toll-free: 1-(800) 955-4572 (patients and families)
Telephone: 1-(888) 557-7177 (general)
E-mail: https://www.lls.org/content/contact-us
Website: https://www.lls.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
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.
References
- General Information About Adult Myeloid Leukemia. National Cancer Institute (NCI). July 28, 2016; https://www.cancer.gov/cancertopics/pdq/treatment/adultAML/Patient#Keypoint2.
- Acute promyelocytic leukemia. Genetics Home Reference (GHR). April 2011; https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia.
- Iacoboni G, Sanz M. Acute promyelocytic leukemia. Orphanet. July 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520.
- 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.
- Predictive Testing. Genetic Alliance UK. July 21, 2016; https://www.geneticalliance.org.uk/information/services-and-testing/predictive-testing/.
- Treatment of acute promyelocytic (M3) leukemia. American Cancer Society. December 9, 2014; https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/m3-leukemia.html.
- 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.
- Kotiah SD, Besa EC. Acute Promyelocytic Leukemia. Medscape. May 7, 2015; https://emedicine.medscape.com/article/1495306-overview.
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