Currently no clinical criteria have been established for the diagnosis of BAP1-TPDS. However the syndrome should be suspected and testing offered to individuals who have one of the following:
- ≥2 confirmed BAP1-TPDS associated tumors*
OR
- One BAP1-TPDS tumor and a 1st- or 2nd-degree relative with a confirmed BAP1-TPDS tumor*
* excluding two cutaneous melanomas given their high frequency in the general population
Confirmed BAP1-TPDS tumors include the following
- BAP1-inactivated melanocytic tumors
- Uveal (eye) melanoma
- Malignant mesothelioma
- Cutaneous (skin) melanoma
- Clear cell renal cell (kidney) carcinoma
