Ocular morbidity in uveal melanocytoma associated with MEN1 syndrome.

Authors

Deanna Ingrassia Miano, Arpita Maniar, Ludmila Francescatto, Thomas Cummings, Michael B Datto, Miguel A Materin

Published in

American journal of ophthalmology case reports. Volume 44. Pages 102675. Epub Sep 29, 2026.

Abstract

To report an aggressive case of melanocytoma with evidence of malignant melanoma transformation in a young patient with MEN1 syndrome.
A 24-year-old female with known MEN1 syndrome presented with new onset floaters in the right eye. Posterior examination demonstrated a pigmented mass. Initial biopsy demonstrated evidence of melanocytoma. Within 4 months, the patient returned with remarkable tumor growth, significantly decreased vision, and pain. Enucleation ensued and pathology revealed ciliary body melanocytoma with evidence of early malignant transformation to melanoma. A somatic gene panel for uveal melanoma was negative, however next generation sequencing demonstrated a variant in MEN1 tumor suppressor gene.
This case demonstrates a rare and rapid progression of uveal melanocytoma in the setting of MEN1. While suspected genetic analysis of key uveal melanoma genes remained negative, final biopsy yielded a transforming melanocytoma with an MEN1 genetic variant. The role of MEN1 in non-endocrine tumorigenesis remains poorly understood however its functionality as a tumor suppressor gene cannot be overlooked when assessing disease course. This case highlights the importance of dilated fundus examinations in MEN1 patients and the need for further investigation in the role of MEN1 in non-endocrine tumorigenesis.

PMID:
42893237
Bibliographic data and abstract were imported from PubMed on 18 Oct 2026.

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