Melanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition.
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BACKGROUND: Uveal melanoma is the most common malignant primary intraocular tumor in adults, associated with high mortality. Pediatric uveal melanoma generally has a more favorable course. However, when metastasis occurs, therapeutic options are limited. DESIGN: Clinical presentation, treatment, and outcome of children with uveal melanoma diagnosed in Germany and Austria between 2013 and 2024 were analyzed. RESULTS: Since 2013, 12 children were diagnosed with uveal melanoma in Germany and Austria-nine in the choroid, three in the ciliary body, and iris. Treatment comprised enucleation (five patients), external beam radiation with protons (two patients), ocular brachytherapy (four patients), and endoresection (one patient). Two patients developed metastasis. A 17-year-old male with liver metastasis died 30 months after diagnosis. A 3-year-old male with metastatic choroidal melanoma presented with metastasis 6 months after enucleation. Chemotherapy followed by nivolumab and ipilimumab led to a complete response. However, immunotherapy caused insulin-dependent diabetes mellitus. Genetic testing revealed a pathogenic constitutional TP53 variant, confirming Li-Fraumeni syndrome (LFS). At 24 months after diagnosis of metastatic disease, he remains in complete response. CONCLUSIONS: This report underscores the rarity and diverse presentation of pediatric choroidal melanoma. Diagnosis of LFS in one patient highlights the importance of genetic testing for tumor predisposition and personalized approaches in managing rare pediatric tumors.