Rare Pulmonology News

Disease Profile

Chronic myeloid leukemia

Prevalence
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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

C92.1

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Chronic granulocytic leukemia; Chronic myelogenous leukemia; CML;

Categories

Blood Diseases; Rare Cancers

Summary

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.

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
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

Diagnosis

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.

    Treatment

    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

    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

      Social Networking Websites

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

        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

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Chronic myeloid leukemia. This website is maintained by the National Library of Medicine.
        • 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.