Question 1

What is PTEN hamartoma tumor syndrome?

Accepted Answer

PTEN hamartoma tumor syndrome is an autosomal dominant condition caused by changes in the PTEN gene. It is characterized by the development of hamartomas, which are benign growths, as well as abnormal overgrowth and neurodevelopmental disorders.

People with this condition also have an increased risk for various cancers, including breast, thyroid, and endometrial cancer. The syndrome includes a group of related conditions such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.

Question 2

What are the symptoms of PTEN hamartoma tumor syndrome?

Accepted Answer

Common signs in people with this condition include the presence of hamartomas (non-cancerous growths), unusual or excessive growth of tissues, and neurodevelopmental challenges. There is also an increased risk of developing certain cancers, which can be considered part of the symptom profile of the syndrome.

Question 3

What causes PTEN hamartoma tumor syndrome?

Accepted Answer

This syndrome is caused by pathogenic variants in the PTEN gene. It follows an autosomal dominant pattern of inheritance, meaning that only one altered copy of the gene is needed to cause the condition. This genetic change leads to the development of hamartomas, overgrowth, and a higher risk for various types of cancer. Associated genes include AKT1.

Question 4

How rare is PTEN hamartoma tumor syndrome?

Accepted Answer

PTEN hamartoma tumor syndrome is classified as uncommon. The estimated prevalence is approximately 1-9 in 100,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 5

How is PTEN hamartoma tumor syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 6

Are there treatments for PTEN hamartoma tumor syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 7

Are there clinical trials for PTEN hamartoma tumor syndrome?

Accepted Answer

Yes, there are currently 6 active clinical trials for PTEN hamartoma tumor syndrome registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

Question 8

Where can I find support for PTEN hamartoma tumor syndrome?

Accepted Answer

Patient advocacy organizations for PTEN hamartoma tumor syndrome include PTEN Hamartoma Tumor Syndrome Foundation, PTEN World. These organizations can provide information, connect you with other families, and help navigate care. Visit the Support section of this page for full details and contact information.

Question 9

What types of cancers are people with PTEN hamartoma tumor syndrome at risk for?

Accepted Answer

People with PTEN hamartoma tumor syndrome have an increased risk for several types of cancers. These include breast cancer, thyroid cancer, and endometrial cancer. It's important for individuals with this condition to have regular check-ups and screenings to monitor for these cancers.

Question 10

How do hamartomas affect daily life for someone with PTEN hamartoma tumor syndrome?

Accepted Answer

Hamartomas are benign growths that can occur in various parts of the body for someone with PTEN hamartoma tumor syndrome. Depending on their location and size, these growths can sometimes cause discomfort or other health issues. Regular monitoring and management by healthcare providers can help address any challenges they may present.

Question 11

What are the neurodevelopmental challenges associated with PTEN hamartoma tumor syndrome?

Accepted Answer

Individuals with PTEN hamartoma tumor syndrome may experience neurodevelopmental challenges, which can affect their learning and behavior. These challenges can vary widely from person to person. Early intervention and support can be beneficial in helping those affected develop skills and cope with any difficulties.

Question 12

How might PTEN hamartoma tumor syndrome affect family planning?

Accepted Answer

Since PTEN hamartoma tumor syndrome follows an autosomal dominant pattern of inheritance, there is a 50% chance that an affected parent can pass the condition to their child. Families considering having children may want to discuss genetic counseling to understand the risks and options available to them.

PTEN hamartoma tumor syndrome

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