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

Chronic myeloid leukemia


Other Names:
Chronic granulocytic leukemia; Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myelogenous leukemia; CML; Leukemia, chronic myeloid See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 521

Definition
Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

Epidemiology
Its annual incidence has been estimated at between 1 and 1.5 cases per 100,000 and its prevalence at around 1 in 17,000.

Clinical description
The disease is typically triphasic with a chronic phase (CML-CP), accelerated phase (CML-AP) and blast phase (CML-BP). The majority of patients are diagnosed in the chronic phase and may be either asymptomatic (diagnosed through a routine white blood cell count) or present with fatigue, anaemia, weight loss, night sweats or splenomegaly.

Etiology
CML is characterised by the presence of the Philadelphia chromosome, an abnormality resulting from a balanced translocation between chromosomes 9 and 22 (t(9;22)(q34;q11.2)). This translocation generates a BCR/ABL gene fusion encoding a constitutively active tyrosine kinase. CML does not appear to be an inherited disease and the factors leading to predisposition for the disorder remain largely unknown.

Management and treatment
Although an allogeneic bone marrow transplant is viewed as the only curative treatment option, the prognosis for patients improved dramatically with the targeted development of imatinib mesylate. Imatinib mesylate is a competitive inhibitor of BCR/ABL tyrosine kinase activity and has held EU marketing authorisation as an Orphan drug for the treatment of CML since 2001.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2007

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
100% of people have these symptoms
Myeloproliferative disorder 0005547
30%-79% of people have these symptoms
Abnormal basophil morphology 0001912
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Poor appetite
Decreased appetite
0004396
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
Thrombocytosis
Increased number of platelets in blood
0001894
Percent of people who have these symptoms is not available through HPO
Chronic myelogenous leukemia 0005506
Ph-positive acute lymphoblastic leukemia 0004848
Reduced leukocyte alkaline phosphatase 0004852
Somatic mutation 0001428
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare 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.

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.

  • Bosutinib (Brand name: Bosulif) - Manufactured by Pfizer Inc.
    FDA-approved indication: Treatment of adult patients with newly-diagnosed chronic phase Philadelphia chromosome-positive chronic myelougenous leukemia. Also for treatment of adult patients with chronic, accelerated or blast phase Philadelphia chromosome-positive (Ph+) chronic myelogenous leukemia (CML) with resistance, or intolerance to prior therapy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information
  • Imatinib mesylate (Brand name: Gleevec®) - Manufactured by Novartis Pharmaceuticals Corp.
    FDA-approved indication: Treatment of chronic myelogenous leukemia
    National Library of Medicine Drug Information Portal
  • Ponatinib (Brand name: Iclusig) - Manufactured by ARIAD Pharmaceuticals Inc.
    FDA-approved indication: Treatment of adult patients with chronic phase, accelerated phase, or blast phase chronic myeloid leukemia (CML) that is resistant or intolerant to prior tyrosine kinase inhibitor therapy or Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ALL) that is resistant or intolerant to prior tyrosine kinase inhibitor therapy.
    National Library of Medicine Drug Information Portal
  • Interferon alfa-2a (recombinant) (Brand name: Roferon®-A) - Manufactured by Hoffmann-La Roche, Inc.
    FDA-approved indication: Treatment of chronic myelogenous leukemia.
    National Library of Medicine Drug Information Portal
  • Dasatinib (Brand name: Sprycel) - Manufactured by Bristol-Myers Squibb Company
    FDA-approved indication: December 2018, dasatinib (Sprycel) was approved for the treatment of pediatric patients 1 year of age and older with Ph+ CML in chronic phase and newly diagnosed Ph+ ALL in combination with chemotherapy. Previously in June 2013, it was approved for treatment of adults with Philadelphia chromosome-positive acute lymphoblastic leukemia with resistance or intolerance to prior therapy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information
  • Omacetaxine mepesuccinate (Brand name: Synribo) - Manufactured by Teva Pharmaceuticals
    FDA-approved indication: Treatment of chronic myelogenous leukemia
    National Library of Medicine Drug Information Portal
  • Nilotinib (Brand name: Tasigna) - Manufactured by Novartis Pharmaceutical Corporation
    FDA-approved indication: March 2018 approved for the treatment of pediatric patients greater than or equal to 1 year of age with newly diagnosed Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase and pediatric patients greater than or equal to 1 year of age with chronic phase Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) with resistance or intolerance to prior tyrosine-kinase inhibitor (TKI) therapy. October 2014 approved for treatment of chronic phase (CP) and accelerated phase (AP) Philadelphia chromosome positive chronic myelogenous leukemia (CML) in adult patients resistant to or intolerant to prior therapy that included Gleevec(imatinib)
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

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

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 Chronic myeloid 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.

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

Social Networking Websites

  • MPD-Support: Myeloproliferative Diseases Support and Daily E-mail Digest

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 
  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

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 Chronic myeloid leukemia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The MPN Research Foundation provides online information on myeloproliferative disorders (MPD). Click on the link to view the resource.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • SEER provides information on cancer statistics. Click on the link to view statistical information on this topic.

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 Chronic myeloid leukemia. Click on the link to view a sample search on this topic.

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