تقرير
Next-generation sequencing of a large uveal melanoma with whole genome doubling and a PBRM1 mutation.
| العنوان: | Next-generation sequencing of a large uveal melanoma with whole genome doubling and a PBRM1 mutation. |
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| المؤلفون: | Ahmad TR; Department of Ophthalmology, Wayne & Gladys Valley Center for Vision, University of California San Francisco, San Francisco, CA, USA., Pekmezci M; Department of Ophthalmology, Wayne & Gladys Valley Center for Vision, University of California San Francisco, San Francisco, CA, USA.; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Clinical Cancer Genomics Laboratory, University of California San Francisco, San Francisco, CA, USA., Bloomer MM; Department of Ophthalmology, Wayne & Gladys Valley Center for Vision, University of California San Francisco, San Francisco, CA, USA.; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Grenert JP; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Clinical Cancer Genomics Laboratory, University of California San Francisco, San Francisco, CA, USA., Afshar AR; Department of Ophthalmology, Wayne & Gladys Valley Center for Vision, University of California San Francisco, San Francisco, CA, USA.; Hellen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA. |
| المصدر: | American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2023 May 27; Vol. 31, pp. 101861. Date of Electronic Publication: 2023 May 27 (Print Publication: 2023). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-9936 (Electronic) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: [Atlanta] : Elsevier, Inc. [2016]- |
| مستخلص: | Purpose: To report a large uveal melanoma with extra-scleral extension which underwent spontaneous infarction and its unique molecular signature profile. Observations: An 81-year-old female presented with a blind, painful eye. Intraocular pressure was 48 mm Hg. There was a large subconjunctival melanotic mass overlying a choroidal melanoma with anterior extension involving the ciliary body and the iridocorneal angle and iris. Ultrasonography confirmed a dome-shaped anterior cilio-choroidal mass with extra-scleral extension. The patient underwent enucleation and pathologic evaluation confirmed cilio-choroidal melanoma. The posterior half of the tumor involving the ciliary body and the extra-scleral component were spontaneously infarcted and were composed of large melanophages. Next-generation sequencing demonstrated a splice site mutation in PBRM1 and whole-genome doubling in addition to a GNAQ hotspot mutation, chromosome 3 loss and 8q gain. Conclusions and Importance: This case of a large, auto-infarcted uveal melanoma demonstrates a PBRM1 mutation and whole-genome doubling. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2023 The Authors.) |
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| فهرسة مساهمة: | Keywords: Choroidal melanoma; Melanomalytic glaucoma; Next-generation sequencing; Uveal melanoma |
| تواريخ الأحداث: | Date Created: 20230609 Latest Revision: 20230612 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC10245097 |
| DOI: | 10.1016/j.ajoc.2023.101861 |
| PMID: | 37293395 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2451-9936 |
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| DOI: | 10.1016/j.ajoc.2023.101861 |