Bilateral Diffuse Uveal Melanocytic Proliferation: Molecular Genetic Analysis of a Case and Review of the Literature
| العنوان: | Bilateral Diffuse Uveal Melanocytic Proliferation: Molecular Genetic Analysis of a Case and Review of the Literature |
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| المؤلفون: | Sophie Thornton, Svetlana Cherepanoff, Bertil Damato, Sarah E. Coupland, Helen Kalirai, Ruchi Mittal |
| المصدر: | Ocular Oncology and Pathology. 2:94-99 |
| بيانات النشر: | S. Karger AG, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Copy number analysis, Bilateral diffuse uveal melanocytic proliferation, Molecular analysis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, 030221 ophthalmology & optometry, Cancer research, Medicine, Clinicopathological features, Multiplex ligation-dependent probe amplification, business, Case Series and Brief Reports, General Nursing |
| الوصف: | 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. |
| تدمد: | 2296-4657 2296-4681 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d530dd698041f5bbd5620d43c0351dee https://doi.org/10.1159/000440766 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....d530dd698041f5bbd5620d43c0351dee |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22964657 22964681 |
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