Rare Oncology News

Disease Profile

Osteosarcoma

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

Childhood

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ICD-10

C41.9

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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Other names (AKA)

Osteogenic sarcoma

Categories

Musculoskeletal Diseases; Rare Cancers

Summary

Osteosarcoma is the most common type of bone cancer. The average age at diagnosis is 15. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. In rare cases, osteosarcoma occurs in adults. Although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone.[1] A number of variants of osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal.[2] The cause of osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk. Treatment varies from person to person and may include surgery, chemotherapy, radiation therapy, and samarium.[1][3]

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
80%-99% of people have these symptoms
Abnormality of the femoral metaphysis
0006489
Osteolysis
Breakdown of bone
0002797
30%-79% of people have these symptoms
Abnormality of the tibial metaphysis
0006491
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase

[ more ]

0003155
Increased lactate dehydrogenase level
0025435
Joint swelling
0001386
Pain
0012531
1%-4% of people have these symptoms
Fever
0001945
Pathologic fracture
Spontaneous fracture
0002756
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Osteosarcoma
Bone cell cancer
0002669
Retinoblastoma
0009919
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

        • The American Cancer Society provides a detailed guide on osteosarcoma. Click on the above link to access this information.
        • 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.

          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 Osteosarcoma. Click on the link to view a sample search on this topic.

            References

            1. Yi-Bin Chen. Osteosarcoma. MedlinePlus. 11/26/2014; https://www.nlm.nih.gov/medlineplus/ency/article/001650.htm.
            2. Mehlman CT, Cripe TP. Osteosarcoma. Medscape. August 23, 2016; https://emedicine.medscape.com/article/1256857-overview.
            3. Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment. National Cancer Institute. August 10, 2016; https://www.cancer.gov/types/bone/patient/osteosarcoma-treatment-pdq.