Table 5.

Recommended Surveillance for Individuals with BAP1 Tumor Predisposition Syndrome

System/ConcernEvaluationFrequency
BIMT, CM,
&/or BCC
  • Full-body skin exam by dermatologist specializing in melanoma
  • Consider whole-body imaging if large number of lesions.
  • Excision of lesions suggestive of BIMT is debated.
  • Mgmt of other suspicious melanocytic lesions & BCC per established clinical guidelines
Annually beginning at age ~18 yrs
UM
  • Dilated eye exam & baseline dilated fundus imaging preferably by ophthalmologist trained in diagnosis & mgmt of UM (ocular oncologist)
  • Alternatively, follow up by ophthalmologist w/referral of suspected lesions to ocular oncologist for proper diagnosis & management
Annually beginning at age ~11 yrs
MMe (pleural
& peritoneal)
  • No consensus on screening modalities exists.
  • Clinical eval for signs/symptoms of pleurisy (pleural inflammation), peritonitis, ascites, &/or pleural effusion: chest pain, cough, fever, shortness of breath, dysphagia, hoarseness, weight loss, fever, upper body & face edema, abdominal pain, nausea, vomiting, &/or constipation
  • If abdominal MRI is to be performed as recommended for RCC, consider eval of peritoneum & pleura as well.
  • Some physicians recommend spiral chest CT for asymptomatic persons w/history of exposure to asbestos; others do not, given possible ↑ risk of cancer from radiation exposure.
  • Avoid routine surveillance w/chest x-ray or CT exam.
RCC
  • Annual clinical exam w/investigation of any suspected symptoms such as abdominal pain &/or hematuria
  • Asymptomatic imaging surveillance using US (renal/abdominal & chest) & MRI (abdominal & chest w/diffusion-weighted sequences)
  • Beginning at age 30 yrs
  • MRI every 2 yrs
  • US every 2 yrs (alternating w/MRIs)

BIMT = BAP1-inactivated melanocytic tumor; CM = cutaneous melanoma; BCC = basal cell carcinoma; RCC = renal cell carcinoma; MMe = malignant mesothelioma; UM = uveal melanoma

From: BAP1 Tumor Predisposition Syndrome

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