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BAP1-TPDS is inherited in an autosomal dominant manner, which means that each child of an affected person has a 50% risk to inherit the condition. However, it appears that not everyone with a mutation will develop a tumor, and the types of BAP1-related tumors can vary among different members of the same family. To date,…

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…

There are several ways in which to manage the BAP1-TPDS: Treatment of manifestations:  For the most part, treatments for BAP1-TPDS tumors are the same as those used in standard practice but this may vary depending on the country’s treatment guidelines/recommendations, or even from center to center. However, because of the increased aggressiveness of uveal melanoma…

The diagnosis of BAP1-TPDSis only made by identification of a mutation in BAP1 through genetic testing (usually done on a blood or saliva sample). Identification of a BAP1 mutation in tumor tissue alone is not enough to confirm a diagnosis since the mutation could have occurred only in the tumor.

The BAP1-TPDS is a hereditary cancer syndrome caused by mutations (also called pathogenic variants) in the BAP1 gene. It predisposes patients to a variety of cancers and a specific precancerous skin lesion called BAP1-inactivated melanocytic tumor (but it has also been called atypical Spitz tumor, or AST, melanocytic BAP1-mutated atypical intradermal tumor (MBAIT) and other…