BAP1 syndrome

Etiology
  • Germline mutation in BAP1 (BRCA1-associated protein 1) gene, a tumor suppressor gene located on chromosome 3p21
 
Associations
  • Melanomas: uveal/choroidal and cutenous
    • Uveal melanoma: aggressive with high metastatic potential
  • Mesothelioma
  • Cholangiocarcinoma
  • Renal cell carcinoma
  • Basal cell carcinoma
 
Multiple pink to brown papules or nodules measuring 0,2-1cm, known as “BAP1-mutated atypical intradermal melanocytic tumors MBAIT or BAPomas (appear at first decades of life)
 
Diagnosis
  • Exicion of lesion and histologic analysis with anti-BAP1 antibody
  • Genetic testing

Follow-up
  • Dermatologic appointments every 6 months
  • Ophtalmological monitoring annual
  • Renal monitoring: MRI or renal U/S from age 40