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病例报告:复发性葡萄膜环状黑色素瘤侵袭性病例中的 - 和 突变

Case Report: - and Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.

作者信息

Prasuhn Michelle, Freitag Josephine Christin, Lüken Sabine, Kakkassery Vinodh, Merz Hartmut, Caliebe Almuth, Spielmann Malte, Ranjbar Mahdy, Rommel Felix

机构信息

Department of Ophthalmology, University Hospital Schleswig-Holstein, University of Lübeck, Lübeck, Germany.

Hämatopathologie Lübeck, Reference Centre for Lymph Node Pathology andHematopathology, Lübeck, Germany.

出版信息

Front Oncol. 2022 May 25;12:873252. doi: 10.3389/fonc.2022.873252. eCollection 2022.

Abstract

The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.

摘要

迄今为止,葡萄膜环状黑色素瘤的分子机制仍不清楚。在本病例报告中,我们描述了一名患有恶性葡萄膜黑色素瘤并伴有渗出性视网膜脱离的患者,该患者接受了敷贴近距离放射治疗,肿瘤成功消退。1年后,出现了伴有眼外扩展的环状复发,该眼需要摘除。组织学和分子遗传学分析显示为上皮样细胞型黑色素瘤,睫状体完全周向受累,且在环状黑色素瘤中发现了迄今未报道的GNAQ和SF3B1突变。因此,本报告提供了关于这种通常导致眼球摘除的眼部肿瘤的新的遗传背景信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22ae/9175007/fb2f5b2b9796/fonc-12-873252-g001.jpg

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