ArticleOcular oncology and pathology2025
Uveal Melanocytoma without GNAQ/GNA11 Mutations.
Article in Ocular oncology and pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
Introduction: Uveal melanocytomas are benign melanocytic proliferations characterized histologically by large polyhedral cells, abundant intracytoplasmic melanin, small centrally located nuclei, and low nuclear-to-cytoplasmic ratios (N:C). Activating missense changes of the G-protein subunits, Case Presentation: A 56-year-old female presented with gradual, painless vision loss in the left eye. On exam, a large (11.1 × 12.8 × 10.6 mm by ocular ultrasound), hyperpigmented ciliochoroidal mass was found in the superior nasal quadrant abutting the lens. The patient elected for enucleation given the tumor's large size and vision loss in the affected eye. An fine needle aspiration (FNA) biopsy of the fresh mass, collected immediately after enucleation, revealed no mutations in the 7-gene DecisionDX-UMSeq panel. Histologic and immunohistochemical evaluation of pupil-optic nerve cross-sections from the formalin fixed paraffin embedded enucleation revealed a ciliary body melanocytoma. DNA extracted from the melanocytoma enucleation cross-sections was sequenced for 197-clinically actionable tumor genes through the Stanford's Actionable Mutation Panel for Solid Tumors (STAMP). The sequencing results confirmed no mutations in Conclusion: To our knowledge, this is the first reported uveal melanocytoma lacking
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