BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma.

Abstract

PURPOSE:

To describe the occurrence of bilateral primary uveal melanoma in 2 patients with mutation on the gene encoding BRCA1-associated protein 1 (BAP1).

METHODS:

Retrospective chart review of patients with bilateral primary uveal melanoma and subsequent positive germline BAP1 mutation.

RESULTS:

There were 2 patients with bilateral uveal melanoma and BAP1 germline positivity. Neither patient demonstrated oculodermal melanocytosis. Patient 1 underwent enucleation of his right eye (OD) at the age of 44 years for a 9.6-mm-thick choroidal melanoma. He returned 4 years later with a 10.0-mm-thick choroidal melanoma in his left eye (OS) and was treated with plaque radiotherapy. He had a strong family history of cancer, and clinical testing for germline BAP1 mutation identified a pathogenic mutation in BAP1. At the 18-month follow-up, visual acuity was 20/200 OS without evidence of systemic metastasis. Patient 2 initially presented at age 54 years with extensive, diffuse iris melanoma OD, initially treated with plaque radiotherapy, but local recurrence after 3 years necessitated enucleation. Four years later, a 6.0-mm-thick ciliary body melanoma OS was found and successfully treated with plaque radiotherapy. Clinical testing for germline BAP1 mutation identified a pathogenic mutation in BAP1. At the 8-year follow-up, visual acuity was 20/40 OS without evidence of local recurrence or systemic metastasis. The patient expired secondary to an unrelated brain infarction.

CONCLUSION:

Bilateral uveal melanoma is exceedingly rare. Patients with bilateral uveal melanoma, especially when coincident with remote systemic cancers or a family history of cancer, should be evaluated for germline BAP1 mutation. Lifelong monitoring for related systemic malignancies is advised.

• Authors: Michael D Yu, Babak Masoomian, Jerry A Shields, Carol L Shields
• Journal: Ocular oncology and pathology (Ocul Oncol Pathol) Vol. 6 Issue 1 Pg. 10-14 (Jan 2020) ISSN: 2296-4681 [Print] Switzerland
• PMID: 32002398 (Publication Type: Case Reports)
• Copyright: Copyright © 2019 by S. Karger AG, Basel.