Rare Nephrology News

Disease Profile

Acute lymphoblastic 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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

All ages

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ICD-10

C91.0

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)

ALL; Acute lymphocytic leukemia

Categories

Rare Cancers

Summary

Acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).[1] It may develop in children or adults. ALL spreads to the blood fairly quickly, and then may spread to other areas of the body such as the lymph nodes, liver, spleen, central nervous system, and testicles (in males).[2] Signs and symptoms of ALL may include fever, easy bruising or bleeding, feeling tired, loss of appetite, pain in the bones or abdomen, and painless lumps in the neck, underarm, stomach, or groin.[1][3]

ALL is typically caused by random, noninherited changes in the DNA of immature lymphocytes called lymphoblasts.[2][4] However, some people may inherit a genetic susceptibility to developing ALL.[4] The risk to develop ALL may also be increased by past treatment for cancer, and by having certain genetic conditions or syndromes. Having one or more risk factors does not mean that a person definitely will develop ALL.[1]

Treatment of ALL depends on the person's age, how advanced the cancer is, and whether certain genetic changes are found in cancer cells. Treatment options may involve systemic and/or intrathecal chemotherapyradiation therapytargeted therapy, and/or a stem cell transplant.[1][3] Biologic therapy and chimeric antigen receptor (CAR) T-cell therapy are currently being studied as treatment options and may be used when other therapies are not working.[1][3]

The chance of recovery also depends on many factors.[1][3] With treatment, about 98% of children with ALL go into remission, and 85% of those with first-time ALL are expected have no long-term complications.[5] The chance of recovery for adults is not as high, as 20-40% of adults are cured with current treatments.[6]

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
Percent of people who have these symptoms is not available through HPO
Acute lymphoblastic leukemia
0006721
Polygenic inheritance
0010982
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.

    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

      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

          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.

            References

            1. Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®)–Patient Version. National Cancer Institute. October 26, 2017; https://www.cancer.gov/types/leukemia/patient/child-all-treatment-pdq.
            2. What is Acute Lymphocytic Leukemia?. American Cancer Society. December 2, 2014; https://www.cancer.org/cancer/acute-lymphocytic-leukemia/about/what-is-all.html.
            3. Adult Acute Lymphoblastic Leukemia Treatment (PDQ®)–Patient Version. National Cancer Institute. October 26, 2017; https://www.cancer.gov/types/leukemia/patient/adult-all-treatment-pdq.
            4. Hamosh A. Leukemia, acute lymphoblastic; ALL. Online Mendelian Inheritance in Man (OMIM). August 9, 2017; https://www.omim.org/entry/613065.
            5. Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®)–Health Professional Version. National Cancer Institute. September 28, 2017; https://www.cancer.gov/types/leukemia/hp/child-all-treatment-pdq.
            6. Seiter K. Acute Lymphoblastic Leukemia (ALL). Medscape Reference. September 2, 2017; https://emedicine.medscape.com/article/207631-overview.