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BAP1 tumor predisposition syndrome (BAP1-TPDS)

BAP1 tumor predisposition syndrome (BAP1-TPDS)




Overview

BAP1 tumor predisposition syndrome, also known as BAP1-TPDS or COMMON syndrome, is an inherited genetic disorder that may increase the risk of certain types of tumors, both cancerous and noncancerous.

Symptoms

Because BAP1-TPDS is hereditary and may be silent for a while, you may not experience symptoms or feel any differently.

However, uveal melanoma, which is the most common cancer associated with BAP1-TPDS, may cause the following symptoms:

Floaters or dark spots in the eye

Blurred vision

Headaches

Unexpected flashes of light in the field of vision

Other cancers associated with BAP1-TPDS include cutaneous melanoma, mesothelioma and clear cell renal cell carcinoma.

 Cutaneous melanoma symptoms may include:

Mole or spot on the skin that changes in shape, texture, color or size

Bleeding, redness, swelling or a lump appearing in a mole

Skin itching, pain or discomfort

Skin sores that don’t seem to heal over time

Mesothelioma associated with BAP1-TPDS most often grows in the abdominal lining (peritoneum) but also sometimes in the membranes around the lungs. It may cause the following symptoms:

Nausea and vomiting

Constipation

Shortness of breath

Chest or abdominal pain

Fluid buildup in the abdomen or chest

General symptoms such as fever, fatigue, unexplained weight loss, excessive sweating and loss of appetite

Clear cell renal cell carcinoma symptoms may include:

Fatigue

Fever

Unexpected weight loss

Blood in the urine

Lump on the side of the abdomen

If you experience any of the symptoms above, or if you have concerns about a genetic predisposition to cancer, it’s always a good idea to speak with your doctor. Some cancers are known to have a genetic link, even if you don’t have BAP1-TPDS, so always seek medical advice if you have any questions or concerns.

Causes

Because BAP1-TPDS is an inherited condition, your risk increases if a family member also has it. Usually, people with BAP1-TPDS have a parent with the syndrome.

It’s also important to remember that being diagnosed with BAP1-TPDS doesn’t necessarily mean you’ll develop tumors. Some research shows that, for patients with BAP1-TPDS, environmental factors may increase the risk of developing tumors, such as exposure to asbestos in the case of malignant mesothelioma

Diagnosis

Genetic testing is the only way to diagnose BAP1-TPDS. During genetic testing, a tissue sample is taken, often from blood, skin or hair. The tissue is examined by a pathologist, who studies the chromosomes and DNA for signs of a genetic disorder like BAP1-TPDS.

Before consenting to genetic testing, talk to your doctor or genetic counselor about the benefits of and considerations for genetic testing so that you’re fully informed. If your doctor has recommended genetic testing, many health insurers cover the cost.

If you’re diagnosed with BAP1-TPDS, your doctor may provide you with more details about what this means for your health. It can be an overwhelming and confusing time, so ask plenty of questions to help better understand what BAP1-TPDS means for you.

Treatment

If you’ve been diagnosed with BAP1-TPDS, your doctor may refer you to an expert who specializes in genetic disorders or rare tumors. Patients with BAP1-TPDS may need more frequent diagnostic tests since there’s an increased risk of developing a tumor.

If a benign or cancerous tumor occurs, your medical team can explain the appropriate course of treatment depending on its type, size and severity.

Some patients with BAP1-TPDS also choose to participate in clinical trials, which may be a way to try new treatments and help to advance research for the benefit of others with the syndrome.

Type of Doctor Department : A genetic counselor or clinical geneticist

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