Rare Pediatrics News

Disease Profile

Papillary thyroid carcinoma

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

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)

Familial nonmedullary thyroid cancer, papillary; Nonmedullary thyroid carcinoma, papillary

Categories

Endocrine Diseases; Rare Cancers

Summary

Papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. Many people with papillary thyroid carcinoma have no signs or symptoms of the condition. When present, symptoms may include a small lump at the base of the neck, hoarseness, difficulty swallowing, trouble breathing, and pain in the neck or throat. Although people of all ages may be diagnosed with the condition, women between ages 30 and 50 are most commonly affected. The cause of papillary thyroid carcinoma is currently unknown. Risks for developing thyroid cancer include a history of high-dose external radiation treatments to the neck and radiation exposure during nuclear plant disasters. The best treatment options depend on many factors, but may include surgery, radiation therapy (including radioactive iodine therapy), chemotherapy and thyroid hormone therapy.[1][2][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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Goiter
Enlarged thyroid gland in neck
0000853
Non-medullary thyroid carcinoma
0040198
Papillary thyroid carcinoma
0002895

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

    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

    • Mayo Clinic has an information page on Papillary thyroid carcinoma.
    • 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.

        References

        1. Keith M Baldwin, DO. Papillary Thyroid Carcinoma. Medscape Reference. September 2016; https://emedicine.medscape.com/article/282276-overview?pa=y4xfVYxZAhLi05xqJK3TAfg%2BROYbugk4JtzHIy%2BokfRqTrHkVKD7RWy7%2FOPx%2B6AwWWZbYikXPTzBHr1kiu8QfhiNxSJ9G4l%2BTQuhj9GxWnk%3D.
        2. Thyroid cancer papillary carcinoma. MedlinePlus. March 2016; https://medlineplus.gov/ency/article/000331.htm.
        3. Thyroid Cancer Treatment (PDQ®). Natitonal Cancer Institute. August 2016; https://www.cancer.gov/types/thyroid/patient/thyroid-treatment-pdq#section/_1.