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We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline  TP53  mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic  BAP1  mutation was detected together with germline missense variants of uncertain significance in  ATM . All cases carried recurrent activating  GNAQ  or  GNA11  mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on  TP53  coding region. No other germline  TP53  mutation was detected in these samples. Germline  TP53  mutation, usually associated with Li-Fraumeni syndrome, is a rare event in UM. To the best of our knowledge, only one family with germline  TP53  mutation has previously been described. In our study, we detected  TP53  mutation in two patients without known family relationship. The identification of germline aberrations in  TP53  or  BAP1  is important to identify patients with Li-Fraumeni syndrome or  BAP1  cancer syndrome, which is also crucial for proper genetic counseling.

Germline mutation in the TP53 gene in uveal melanoma