Rare Ophthalmology News

Disease Profile

Anaplastic thyroid cancer

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 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Adult

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ICD-10

C73

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)

Thyroid cancer, anaplastic; Thyroid carcinoma, anaplastic; Anaplastic thyroid carcinoma

Categories

Rare Cancers

Summary

Anaplastic thyroid cancer (ATC) accounts for less than 2% of all thyroid cancers and is the most aggressive type of thyroid cancer.[1] Most cases of anaplastic thyroid cancer are diagnosed in the sixth to seventh decade of life. Women are more likely to be affected than men.[1] ATC generally occurs in individuals with a history of goiter or thyroid cancer.[1] A history of head and neck radiation or exposure to radioactive materials may also increase the risk for ATC.[2] Patients with ATC generally present with a rapidly-growing neck mass which may cause trouble swallowing (dysphagia), coughing, neck pain, and trouble breathing (dyspnea).[1] Metastasis is present in more than half of individuals at the time of diagnosis. Patients with metastases may also present with bone pain, lymph node enlargement, weakness, and neurological deficits.[1] Treatment of ATC is mostly palliative.[1]

Treatment

Treatment of anaplastic thyroid cancer is mostly palliative. In some cases, surgery with radiation and chemotherapy may prolong survival.[3] However, this type of cancer generally cannot be cured by surgery.[4] Surgery to place a tube in the throat to help with breathing (tracheostomy) or in the stomach to help with eating (gastrostomy) may be needed during treatment.[4] For some patients, enrolling in a clinical trial may be an option.[4] There is no effective treatment for metastatic anaplastic thyroid cancer.[5]

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.

  • Dabrafenib and Trametinib combination(Brand name: Tafinlar and Mekinist combination) Manufactured by Novartis Pharmaceuticals Corporation
    FDA-approved indication: May 2018 approved combination for the treatment of patients with locally advanced or metastatic anaplastic thyroid cancer (ATC) with BRAF V600E mutation and with no satisfactory locoregional treatment options.
  • Thyrotropin alpha(Brand name: Thyrogen®) Manufactured by Genzyme Corporation
    FDA-approved indication: As an adjunctive diagnostic tool for serum thyroglobulin (Tg) testing with or without radioiodine imaging in the follow-up of patients with thyroid cancer.
    National Library of Medicine Drug Information Portal

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.

    In-Depth Information

    • 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 Anaplastic thyroid cancer. Click on the link to view a sample search on this topic.

      References

      1. Anastasios K Konstantakos. Anaplastic Thyroid Carcinoma. Medscape. April 16, 2015; https://emedicine.medscape.com/article/283165-overview. Accessed 7/1/2015.
      2. Thyroid cancer: Anaplastic Thyroid Cancer (ATC). The American Association of Endocrine Surgeons. https://endocrinediseases.org/thyroid/cancer_anaplastic.shtml#top. Accessed 7/1/2015.
      3. Anastasios K Konstantakos. Anaplastic Thyroid Carcinoma. Medscape. April 16, 2015; https://emedicine.medscape.com/article/283165-overview. Accessed 7/1/2015.
      4. Anaplastic thyroid cancer. MedlinePlus. March 23, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000352.htm. Accessed 7/1/2015.
      5. R. Michael Tuttle and Eric J. Sherman. Anaplastic thyroid cancer. UpToDate. Jan 13, 2015; https://www.uptodate.com/contents/anaplastic-thyroid-cancer. Accessed 7/1/2015.
      6. Anastasios K Konstantakos. Anaplastic Thyroid Carcinoma. April 16, 2015; https://emedicine.medscape.com/article/283165-overview. Accessed 7/1/2015.
      7. Anaplastic thyroid cancer. MedlinePlus. March 23, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000352.htm. Accessed 7/1/2015.
      8. R. Michael Tuttle and Eric J. Sherman. Anaplastic thyroid cancer. UpToDate. Jan 13, 2015; https://www.uptodate.com/contents/anaplastic-thyroid-cancer. Accessed 7/1/2015.

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