Spectrum of presentation of intraocular metastases from cutaneous melanoma in the era of immunotherapy and targeted therapies

• Published in: Eye (London) Vol. 39; no. 9; pp. 1825 - 1830
• Main Authors: Lemaître, Stéphanie, Arora, Amit K., Hay, Gordon Robert, Sagoo, Mandeep S.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.06.2025; Nature Publishing Group
• Subjects: 59; 631/67; 692/699; Choroid Neoplasms - secondary; Choroid Neoplasms - therapy; Diagnosis; Enucleation; Eye Neoplasms - diagnosis; Eye Neoplasms - secondary; Eye Neoplasms - therapy; Genetic analysis; Humans; Immune checkpoint inhibitors; Immunotherapy; Immunotherapy - methods; Laboratory Medicine; Medicine; Medicine & Public Health; MEK inhibitors; Melanoma; Melanoma - diagnosis; Melanoma - secondary; Melanoma - therapy; Melanoma, Cutaneous Malignant; Metastases; Metastasis; Molecular Targeted Therapy; Ophthalmology; Patients; Pharmaceutical Sciences/Technology; Radiation therapy; Retrospective Studies; Skin Neoplasms - pathology; Skin Neoplasms - therapy; Surgery; Surgical Oncology; Uveitis; Vitreous Body - pathology
• ISSN: 0950-222X; 1476-5454; 1476-5454
• DOI: 10.1038/s41433-025-03753-x

Background Intraocular metastases from cutaneous melanoma are rare. Diagnosis can be challenging and there is currently no consensus on treatment. However, with the increasing incidence of this cancer and improved survival of patients treated with targeted BRAF-MEK inhibitors and checkpoint inhibitors, it is likely that more cases will be referred to ocular oncology clinics. Subjects Single-centre retrospective study. We included all the patients diagnosed with intraocular metastases from cutaneous melanoma seen between 2017 and 2022. Results The first patient had bilateral choroidal metastases and unilateral vitreous cells (treated with external beam radiotherapy and immunotherapy), the second had unilateral amelanotic vitreous metastasis (treated with vitrectomy and BRAF-MEK inhibitors) and the third had bilateral multifocal choroidal metastases (treated with BRAK-MEK inhibitors followed by immunotherapy). The fourth patient (previously reported) had unilateral anterior segment and vitreous metastases (treated with immunotherapy and enucleation). Interestingly, two patients had a history of uveitis in the affected eye, unrelated to the ocular metastases. All four patients had synchronous systemic metastases. Conclusions The diagnosis of intraocular metastases from cutaneous melanoma is generally clinical but it is sometimes challenging because of possible masquerade syndromes. The presence of other extraocular metastatic sites is an indicator of the diagnosis. Cytopathologic proof combined with genetic analysis is sometimes necessary for diagnosis, especially with amelanotic vitreous debris or in rare cases where systemic screening is negative. New treatments with targeted BRAF-MEK inhibitors and checkpoint inhibition may avoid external beam radiotherapy and enucleation in some patients.