Have you ever noticed strange lumps or bumps on your body or that of someone in your family? Some of them may seem like nothing to worry about, but sometimes they can be signs of a medical condition. Today, we're going to talk about one of those conditions that you should be concerned about.
What is PTEN Hematoma Tumor Syndrome (PHTS)?
Simply put, PTEN Hamartoma Tumor Syndrome (PHTS) is a group of diseases caused by a change, or mutation, in a gene called `PTEN` in our body. Now you may be asking what the `PTEN` gene is. Imagine that there is a person in our body who controls the growth of cells, who acts like a guard. That is what this `PTEN` gene is like. This is a `tumor suppressor gene` . What it does is produce an `enzyme` that stops our cells from growing uncontrollably and forming tumors.
So, when there is a mutation, or a defect, in this `PTEN` gene, the control of cell growth does not work properly. Then the cells start to grow uncontrollably, and things called `hamartomas` can form. A hamartoma is a non-cancerous (`benign`) , non-dangerous, tumor-like growth. If you have PHTS, you are at increased risk of developing these types of hematomas and other non-cancerous tumors. Also, sometimes there is a risk of cancerous (`malignant`) , tumors, which means cancer.
What types of syndromes fall under the PHTS category?
This broad category of PHTS includes two main syndromes: Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Doctors used to consider these two as separate conditions, but now they are both linked to mutations in the PTEN gene, so they are grouped under the same umbrella term, PHTS.
The health risks faced by someone with PHTS, whether it's Cowden syndrome or BRRS, are very similar. Sometimes, someone with PHTS may experience symptoms related to both syndromes during their lifetime.
- Cowden syndrome: This is most common in adults. These people can develop both benign and malignant tumors. These tumors most commonly occur in the breast, uterus, thyroid gland, gastrointestinal tract, skin, tongue, and gums.
- Bannayan-Riley-Ruvalcaba syndrome (BRRS): This mostly affects young children. Children with BRRS may develop skin tumors and birthmarks. They may also experience developmental delays .
What are the symptoms of PHTS?
PHTS can cause hematomas to form in various tissues of your body. The exact symptoms you experience will vary depending on the type of PHTS you have. In general, if you have PHTS, you may experience one or more of the following symptoms:
Skin spots and boils
- Small growths that seem to hang from the skin (skin tags or acrochordons) .
- Dark, flat spots on the palms and soles of the feet (palmoplantar keratoses ).
- Small, smooth lumps on the face (trichilemmomas ).
- Skin-colored, raised bumps ( papillomas ).
- Fatty tumors ( lipomas ) that develop under the skin.
- Hard lumps that look like gums inside the mouth (oral fibromas ).
- Growths of blood vessels visible on the skin surface ( hemangiomas and birthmarks ).
- Freckles on the male genitalia (`freckling on your penis` ).
Types of non-cancerous (`Benign`) tumors
- Thyroid nodules ( lumps in the thyroid gland).
- Enlargement of the thyroid gland with the formation of several nodules (multinodular goiters ).
- Tumors in the uterus ( uterine fibroids ).
- Fibroadenomas of the breast .
- Cystic soft tissue changes in the breasts ( fibrocystic breasts ).
- Small growths that form in the upper part of the digestive tract and large intestine (colon polyps ).
Brain and development problems
- Having a head that is larger than normal (macrocephaly ).
- Having a particularly elongated head ( dolichocephaly ).
- Developmental delays .
- Autism spectrum disorder (Autism spectrum disorder ).
What causes PHTS?
As we have discussed before, the main cause of PHTS is a mutation, or change, in the `PTEN` gene. This `PTEN` gene is responsible for releasing an `enzyme` that signals cells to stop dividing and also signals when a cell should die (`apoptosis`). This then makes room for new, healthy cells.
In PHTS, the PTEN gene does not work properly. As a result, cells can continue to divide and grow uncontrollably. Eventually, these cells can grow together to form tumors. Although these tumors are usually benign, they can sometimes become cancerous.
PHTS is a genetic condition that is passed down from generation to generation . This means that children can inherit this mutated gene from their parents.
How does PHTS come from the lineage?
You inherit PHTS in an ``autosomal dominant`` pattern . Do you know what that means? We all have two copies of the ``PTEN`` gene in our bodies. One from our mother, one from our father. In the case of PHTS, you inherit one healthy copy of the ``PTEN`` gene and one copy that is ``mutated``. Even if you have one healthy copy, the mutated ``PTEN`` gene causes the problems associated with PHTS. This means that even if only one of the parents has the mutated gene, there is a 50% chance that their child will inherit it.
Sometimes, you don't inherit the mutated PTEN gene from your parents. Instead, the mutation can develop before you're born, either as an embryo or fetus .
No matter how you get this mutation, if you have it, your child has a 50% chance of inheriting that mutated gene copy.
What is the risk of cancer associated with PHTS?
If you have Cowden syndrome, you have a higher risk of developing certain types of cancer than the general population. Therefore, you should have cancer screening throughout your life to manage this risk. Although these tests cannot prevent cancer from developing, if they are detected early, treatment can be started early and the results can be better.
The types of cancer you may be at higher risk for are:
- Breast cancer
- Thyroid cancer
- Kidney cancer
- Uterine cancer
- Colorectal cancer
- Melanoma, a skin cancer
Further research is still underway into the cancer risk associated with BRRS.
How is PHTS diagnosed?
Your doctor will determine if you have PHTS if they find a mutation in the PTEN gene. You will need to undergo genetic testing to see if you have this mutation. This is usually done through a blood test .
There are genetic testing guidelines for diagnosing Cowden syndrome (for example, from the National Comprehensive Cancer Network and the Cleveland Clinic). These guidelines are updated regularly based on new research. The International Cowden Consortium has also established criteria for diagnosing Cowden syndrome. Your doctor will decide whether you need this test based on your symptoms, family history of tumors, and whether you have a PTEN mutation.
Although there are no standard guidelines for diagnosing BRRS, your doctor may recommend the same tests as those used to diagnose Cowden syndrome.
The most important thing is that if you are confirmed to have this mutation, it is very important that other members of your family also get this test.
Can PHTS be completely cured?
Unfortunately, there is currently no cure for PHTS. However, scientists are continuing to research what treatments work best for cancers with a PTEN mutation.
How is PHTS treated and managed?
If you have PHTS, you may have a team of doctors looking after your health. They will help you manage everything from your symptoms to abnormal growths to growth delays. They will also assess your cancer risk and decide how often you should have cancer screenings.
Treatment methods
Although there are no specific guidelines for treating tumors, cancerous or noncancerous, with a PTEN mutation, treatment will depend on your symptoms. These treatments may include:
- Surgery: The removal of abnormal tissue. Before surgery, the doctor may take a sample of tissue to check for cancer cells ( a biopsy ).
- Cryotherapy: The use of extreme cold to destroy abnormal tissue.
- Laser ablation: The use of high heat to destroy abnormal tissue.
- Medicated topical creams: Special creams designed to destroy skin tumors.
Tests for cancer
If you have Cowden syndrome, you will need to have regular, lifelong surveillance to monitor for both noncancerous and cancerous growths. This means that if any problems develop, they can be caught as early as possible, at the best time to treat them. Although there are no standard guidelines for monitoring people with BRRS, your doctor may recommend tests similar to those done for Cowden syndrome.
These testing methods may include the following, which are frequently performed:
- Mammograms: A test that uses low-dose X-rays to take pictures of breast tissue.
- Breast MRIs: A test that uses a large magnet and radio waves to take pictures of breast tissue.
- Ultrasounds: A test that uses sound waves to take pictures of breast tissue.
- Colonoscopies: A test that looks inside the large intestine using a camera-equipped tube (scope). This tube can also be used to remove polyps. This can stop growths before they become cancerous.
- Endoscopy: A test in which a tube (scope) with a camera attached is inserted to look at the esophagus, stomach, and upper part of the small intestine (duodenum).
Depending on the test results, a biopsy may be needed to confirm whether the abnormal tissue contains cancer cells.
Can PHTS be prevented?
There is no way to prevent PHTS. However, regular cancer screening can help detect cancer early, when it is most treatable. Therefore, it is important to have these screenings as directed by your doctor.
What kind of future can someone with PHTS expect?
Your future depends on many factors, including your symptoms and overall health. If you have PHTS/Cowden syndrome, you have an increased risk of developing certain types of cancer. That's why cancer screening is so important. Catching and treating cancer early is the best way to improve your chances of recovery (prognosis).
When should I see a doctor?
Follow your doctor's instructions about how often you should get screened for cancer. It's also important to know the warning signs of cancer. Ask your doctor what symptoms you should be aware of.
Finding out that you or your child has a condition like PHTS can be a very difficult experience. It is a condition that requires constant attention. It can be distressing for many people. However, careful screening can go a long way in saving or prolonging your life if you develop cancer. If you are diagnosed with PHTS, be sure to learn about your health risks, how your medical team will monitor your health, and how your treatment plan can improve your long-term health.
How does the PTEN gene cause cancer?
As we discussed earlier, a mutation in the PTEN gene can cause cells to grow uncontrollably and form tumors. Although PHTS is most commonly associated with noncancerous tumors called hematomas, this uncontrolled cell growth can also lead to cancerous tumors. Both types of tumors are caused by cells dividing rapidly. While noncancerous tumors are localized, cancerous tumors can spread throughout the body (metastasize) . When they do, the cancer cells damage healthy tissue.
Brief points to remember
Okay, so let's recap some of the most important things to remember about the PHTS we talked about:
- PHTS is a condition caused by a mutation in a gene called `PTEN`. This gene helps control the growth of our cells.
- This condition can cause non-cancerous lumps (hematomas) and other growths to form in various parts of the body.
- People with PHTS, especially those with Cowden syndrome, are at increased risk of developing certain types of cancer (such as breast, thyroid, kidney, uterine, and colon cancer).
- This is a condition that can be inherited . If you have it, your children have a 50% chance of inheriting it.
- PHTS cannot currently be completely cured. However, symptoms can be controlled and the risk of cancer can be managed.
- Regular cancer screenings can be life-saving, as cancer is more likely to be treated and cured if detected early.
- If you or someone in your family has these symptoms, be sure to seek medical advice. Genetic testing and proper medical monitoring are very important.
Don't panic, but the most important thing is to be informed. If you have any further questions, don't hesitate to talk to your doctor.
` PTEN, Hematoma, Tumor, Syndrome, Gene Mutation, Cancer, Cowden Syndrome, BRRS
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