Ruchi Mittal1, Svetlana Cherepanoff2, Sophie Thornton3, Helen Kalirai3, Bertil Damato4, Sarah E Coupland3. 1. Dalmia Ophthalmic Pathology Services, L.V. Prasad Eye Institute, Bhubaneswar, India. 2. Save Sight Institute, University of Sydney, Sydney, N.S.W., Australia. 3. Pathology, Department of Clinical and Molecular Cancer Medicine, University of Liverpool, Liverpool, UK. 4. Ocular Oncology Service, University of California, San Francisco, Calif., USA.
Abstract
PURPOSE OF THE STUDY: To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium. METHODS: Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP. RESULTS: Histological evaluation revealed proliferation of bland spindle cells, diffusely replacing the uveal tract, which showed a proliferation index of less than 1%. There was absence of mutations involving the codon 209 and 183 of GNAQ, and of GNA11. MLPA analysis showed disomy 3 with polysomy 8q for both eyes. The patient died 8 years later of an unrelated condition. CONCLUSIONS: Although BDUMP is considered to be a benign proliferative disease, copy number alterations of unknown significance may occur in these lesions.
PURPOSE OF THE STUDY: To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium. METHODS: Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP. RESULTS: Histological evaluation revealed proliferation of bland spindle cells, diffusely replacing the uveal tract, which showed a proliferation index of less than 1%. There was absence of mutations involving the codon 209 and 183 of GNAQ, and of GNA11. MLPA analysis showed disomy 3 with polysomy 8q for both eyes. The patient died 8 years later of an unrelated condition. CONCLUSIONS: Although BDUMP is considered to be a benign proliferative disease, copy number alterations of unknown significance may occur in these lesions.
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