Familial papillary or follicular thyroid carcinoma

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ORPHA:319487OMIM:188470C73
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Overview

Familial papillary or follicular thyroid carcinoma is a rare inherited form of thyroid cancer that runs in families. Unlike most thyroid cancers, which occur by chance (sporadically), this condition involves two or more close family members developing papillary or follicular thyroid cancer without another known genetic syndrome being the cause. Papillary thyroid carcinoma is the most common type, forming in the cells that produce thyroid hormones, while follicular thyroid carcinoma is the second most common type. Both arise from the follicular cells of the thyroid gland, a butterfly-shaped gland at the base of the neck that controls metabolism. The most common symptom is a painless lump or nodule in the neck. Some people notice swollen lymph nodes, difficulty swallowing, hoarseness, or a feeling of pressure in the throat. In many cases, the cancer is found during a routine physical exam or imaging done for another reason. Familial cases may appear at a younger age and can sometimes be more aggressive than sporadic thyroid cancer, with a higher chance of affecting both sides of the thyroid or spreading to nearby lymph nodes. Treatment typically involves surgery to remove part or all of the thyroid gland (thyroidectomy), often followed by radioactive iodine therapy to destroy any remaining cancer cells. Lifelong thyroid hormone replacement medication is needed after surgery. The overall outlook for most patients is very good, especially when the cancer is caught early. Because this condition runs in families, screening of close relatives is strongly recommended to allow early detection and treatment.

Also known as:

Key symptoms:

Painless lump or nodule in the neckSwollen lymph nodes in the neckDifficulty swallowingHoarseness or voice changesFeeling of pressure or tightness in the throatNeck pain that may spread to the earsPersistent cough not related to a coldVisible swelling at the base of the neckFatigueUnexplained weight changesBreathing difficulty in advanced cases

Clinical phenotype terms (15)— hover any for plain English
Spinal cord compressionHP:0002176Abnormal lymph node morphologyHP:0002733Papillary thyroid carcinomaHP:0002895Colon cancerHP:0003003Nodular goiterHP:0005994Chronic lung diseaseHP:0006528Follicular thyroid carcinomaHP:0006731Papillary renal cell carcinomaHP:0006766Neoplasm of head and neckHP:0012288Abnormal neck blood vessel morphologyHP:3000037
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial papillary or follicular thyroid carcinoma.

View clinical trials →

No actively recruiting trials found for Familial papillary or follicular thyroid carcinoma at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial papillary or follicular thyroid carcinoma community →

No specialists are currently listed for Familial papillary or follicular thyroid carcinoma.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial papillary or follicular thyroid carcinoma.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Familial papillary or follicular thyroid carcinoma

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Should my close family members be screened for thyroid cancer, and at what age should screening begin?,Is genetic testing available for our family, and would it help guide screening or treatment?,What type of surgery do you recommend — total thyroidectomy or partial — and why?,Will I need radioactive iodine therapy after surgery, and what are the side effects?,How often will I need follow-up blood tests and imaging, and for how long?,What are the signs of recurrence I should watch for?,Are there any clinical trials or new treatments available for familial thyroid cancer?

Common questions about Familial papillary or follicular thyroid carcinoma

What is Familial papillary or follicular thyroid carcinoma?

Familial papillary or follicular thyroid carcinoma is a rare inherited form of thyroid cancer that runs in families. Unlike most thyroid cancers, which occur by chance (sporadically), this condition involves two or more close family members developing papillary or follicular thyroid cancer without another known genetic syndrome being the cause. Papillary thyroid carcinoma is the most common type, forming in the cells that produce thyroid hormones, while follicular thyroid carcinoma is the second most common type. Both arise from the follicular cells of the thyroid gland, a butterfly-shaped gla

How is Familial papillary or follicular thyroid carcinoma inherited?

Familial papillary or follicular thyroid carcinoma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial papillary or follicular thyroid carcinoma typically begin?

Typical onset of Familial papillary or follicular thyroid carcinoma is adult. Age of onset can vary across affected individuals.