Rare Pediatrics News

Disease Profile

Leiomyosarcoma

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.

Unknown

Age of onset

Childhood

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ICD-10

C49.9

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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Categories

Rare Cancers

Summary

Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells.[1] Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved.[2] It is most often found in the uterus or abdomen.[1]

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

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma.[3]

    Additional information on the treatment of intestinal leiomyosarcoma is available from Medscape Reference. You may need to register to view this online medical resource, but registration is free

    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

      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.
      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
      • 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.

        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.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

          Selected Full-Text Journal Articles

            References

            1. Chen Y. Leiomyosarcoma. MedlinePlus. March 23, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000916.htm. Accessed 6/26/2015.
            2. What is Leiomyosarcoma?. LMSarcoma Direct Research Foundation. https://www.lmsdr.org/whatis_leiomyosarcoma.php. Accessed 6/26/2015.
            3. Treatment Possibilities. LMSarcoma Direct Research Foundation. https://www.lmsdr.org/treatments.php. Accessed 6/26/2015.

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