Table 4.

Treatment of Manifestations in Individuals with BAP1 Tumor Predisposition Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
BIMT, CM, &/or BCC
  • Annual dermatologic exam & whole-body imaging recommended for stable asymptomatic BIMT lesions
  • Treatment of CM & BCC per established clinical guidelines
Excision biopsy of BIMT is suggested but not universally recommended for asymptomatic, stable lesions [Star et al 2018].
UM Manage UMs as more aggressive tumors (i.e., those determined to be Class 2 by expression profiling & those w/monosomy 3)Because of ↑ aggressiveness of BAP1-related UM [Njauw et al 2012]
MMe Treatment per oncologist familiar with BAP1-MMe
  • MMe is highly refractory to conventional therapies incl aggressive surgical intervention & multimodality strategies; thus, a cure is unlikely.
  • Recent studies suggest that BAP1-related MMe could respond better to chemotherapy.
  • Several clinical trials incl w/PARP inhibitor are ongoing.
RCC Treatment per established management guidelinesSeveral clinical trials incl w/PARP inhibitor are ongoing.

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

From: BAP1 Tumor Predisposition Syndrome

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