Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

Abstract

We report two patients who developed a second distinct choroidal melanoma in the same eye following successful regression of their first choroidal melanoma after iodine-125 plaque brachytherapy. Neither patient demonstrated ocular melanocytosis, local tumor recurrence, or vitreous seeding. One patient had the second tumor arising from a previously documented choroidal nevus, and after undergoing enucleation, there was no detectable connection between the tumors on histopathologic examination. Germline BAP1 mutation was absent in both cases. Multifocal primary uveal melanoma is a rare entity in which the second tumor may occur either de novo or from a malignant transformation of a choroidal nevus. Known risk factors include ocular melanocytosis or germline BAP1 mutation. Additional underlying mechanisms have yet to be elucidated.

Multifocal choroidal melanoma: a clinicohistopathological correlation

“…A review of the literature suggests two important risk factors, ocular melanocytosis and germline BAP1 mutation, for the development of multifocal choroidal tumours 7 13–15. In our case, although there was no ocular melanocytosis, the BAP1 mutation was positive, thereby demonstrating BAP1 as a recognised predisposing factor associated with multifocal UM.…”

Multiple Uveal Melanoma

“…Regarding multifocal unilateral uveal melanoma, there have been just over 20 cases reported in the literature [14][15][16][17][18][19][20]22]. In our series, it was important to distinguish between the occurrence of a new tumor in the same eye and local recurrence.…”

“…The incidence of uveal melanoma in the USA has been estimated to be 5.1-5.2 per million [1][2][3]. Having a diagnosis of uveal melanoma more than once in a lifetime is expected to be exceedingly rare but has been reported either as bilateral melanoma [4][5][6][7][8][9][10][11][12][13], unilateral multiple/ multifocal melanoma [14][15][16][17][18][19][20][21][22], or melanoma with metastasis to the ipsilateral [21,23] or contralateral [24][25][26][27][28] eye. In this chart review, our aim is to identify any such cases among patients who have been diagnosed and treated for uveal melanoma at the Duke University Eye Center (DUEC) Ophthalmic Oncology Center.…”

Clinical and Multimodal Imaging Clues in Differentiating Between Tuberculomas and Sarcoid Choroidal Granulomas

“…7 Occasionally, uveal melanomas can mimic multifocal choroiditis leading to diagnostic dilemmas. 39 Solitary idiopathic choroiditis (SIC), previously known as unifocal helioid choroiditis, presents as a single, nummular, yellow-white choroidal mass (>1 disc diameter). A characteristic sign of SIC is the presence of red-orange halo surrounding the lesion.…”