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BAP1 tumor predisposition syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

BAP1 tumor predisposition syndrome

BAP1 tumor predisposition syndrome is an inherited disorder that significantly increases the risk of developing various malignant and benign tumors, particularly affecting the skin, eyes, kidneys, and mesothelium.

Overview

BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.

Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and .

A type of eye cancer called is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.

People with BAP1 tumor predisposition syndrome are at risk of developing , which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and

Frequently Asked Questions

BAP1 tumor predisposition syndrome is an inherited disorder, meaning it can be passed down through generations. If a family member is diagnosed, other close relatives (parents, siblings, children) may also be at risk. Genetic counseling is highly recommended to discuss the inheritance pattern, assess individual risk, and explore genetic testing options. Testing can identify family members who carry the BAP1 gene mutation, allowing them to begin early and targeted cancer surveillance programs.
Individuals with BAP1 tumor predisposition syndrome require comprehensive and regular surveillance due to the increased risk of multiple cancers. This typically includes annual full-body skin exams by a dermatologist to check for atypical Spitz tumors, cutaneous melanoma, and basal cell carcinoma. Ophthalmologic exams, often including dilated fundus exams, are recommended every 6-12 months to screen for uveal melanoma. Kidney imaging (e.g., ultrasound or MRI) may be performed periodically to screen for renal cell carcinoma. Surveillance for malignant mesothelioma, particularly in the abdomen, may involve imaging like MRI or CT scans, though specific guidelines are still evolving.
For uveal melanoma, which is often asymptomatic, individuals should be vigilant for blurred vision, new floaters or flashes of light, headaches, or a visible dark spot on the eye. Regular ophthalmologic exams are critical for early detection. For malignant mesothelioma, especially abdominal, symptoms can be vague but may include abdominal pain, swelling, unexplained weight loss, or changes in bowel habits. Any persistent or new concerning symptoms should be promptly reported to a healthcare provider.
typical Spitz tumors are skin growths that are generally considered benign, but their potential to become cancerous is not fully understood. In individuals with BAP1 syndrome, these tumors are common, and some may have dozens. They are typically monitored closely by a dermatologist through regular full-body skin exams. Any changes in size, shape, color, or symptoms (like itching or bleeding) should be evaluated. While often benign, some atypical Spitz tumors may be biopsied or surgically removed for definitive diagnosis or if there is concern about malignant transformation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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