Concerns About Presence of a Wild-Type BAP1 Allele in Absence of Nuclear Protein Expression—Reply

In Reply We greatly appreciate the interest and insightful comments from Dr Napolitano and Dr Carbone regarding our recent report of a patient with multiple cutaneous melanomas, atypical moles, and a novel BAP1 germline mutation.¹ As noted by Drs Napolitano and Carbone, the melanoma shown in the histologic image has complete nuclear loss of expression of BAP1, while the electropherogram shows the presence of both the mutant BAP1 and wild-type BAP1. Furthermore, they note that in their experience with studying mesotheliomas, there were no methylation changes in BAP1.²