Rare Rheumatology News

Disease Profile

Glioblastoma

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

All ages

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ICD-10

C71.9

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)

Glioblastoma multiforme

Categories

Rare Cancers

Summary

Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.[1][2][3]

Symptoms

Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include:[1][2][3]

  • Headache
  • Nausea and vomiting
  • Drowsiness
  • Changes in personality
  • Weakness on one side of the body
  • Memory loss
  • Speech difficulty
  • Changes in vision
  • Seizures

Cause

In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene.[1][2][3]

Diagnosis

Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation.[1][3]

However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome.[1][3] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. 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.

Glioblastoma is typically diagnosed based on a physical exam that identifies characteristic symptoms and various imaging studies such as computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. These imaging studies will also provide information regarding the size of the tumor and which parts of the brain are affected. Surgical removal of the tumor or a small biopsy may confirm the diagnosis.[1][2]

Treatment

Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.[1][2]

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 Brain Tumer Association has an information page on Glioblastoma. Click on the link to view this information page.
      • The Merck Manual provides information on this condition for patients and caregivers.
      • 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 Merck Manual for health care professionals provides information on Glioblastoma.
        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Glioblastoma. Click on the link to view a sample search on this topic.

          References

          1. Jeffrey N Bruce, MD. Glioblastoma Multiforme. Medscape Reference. May 2014; https://emedicine.medscape.com/article/283252-overview.
          2. GLIOBLASTOMA MULTIFORME. NORD. May 2009; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/281/viewAbstract.
          3. Adult Brain Tumors Treatment (PDQ®). National Cancer Institute. January 2015; https://www.cancer.gov/cancertopics/pdq/treatment/adultbrain/Patient#_440.

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