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伴有原发性皮肤黑色素瘤的眼源性转移性黑色素瘤至膀胱:诊断挑战——一例报告

Metastatic Melanoma to the Urinary Bladder of Ocular Origin Accompanied with Primary Cutaneous Melanoma: Diagnostic Challenge-A Report of a Case.

作者信息

Theocharides Constantine, Chatzopoulos Kyriakos, Papanikolaou Dimitrios, Siokas Vasileios, Amplianitis Ioannis, Papanikolaou Athanasios

机构信息

Department of Pathology, "Gennimatas" General Hospital, Thessaloniki, Greece.

Department of Urology, Papageorgiou General Hospital, Thessaloniki, Greece.

出版信息

Case Rep Pathol. 2017;2017:4818537. doi: 10.1155/2017/4818537. Epub 2017 Sep 11.

Abstract

Metastases of melanoma to the urinary bladder are infrequent. Even rarer are metastases to the urinary bladder from uveal melanoma, with only 3 cases published in the literature so far. Herein we present a case of a 77-year-old male patient who presented with metastatic melanoma to the urinary bladder. The patient's history included the diagnoses of uveal melanoma treated with radiation 25 years ago, as well as that of cutaneous melanoma diagnosed 7 years ago. The molecular study of the urinary bladder tumor specimen identified mutation of the GNAQ gene, which has been suggested to be an early molecular event in the pathogenetic course of over 80% of uveal melanomas. Therefore, the diagnosis of uveal melanoma metastatic to the urinary bladder was made.

摘要

黑色素瘤转移至膀胱并不常见。葡萄膜黑色素瘤转移至膀胱则更为罕见,迄今为止文献中仅报道过3例。在此,我们报告一例77岁男性患者,其患有膀胱转移性黑色素瘤。患者既往史包括25年前接受放疗的葡萄膜黑色素瘤诊断,以及7年前诊断的皮肤黑色素瘤。对膀胱肿瘤标本的分子研究发现GNAQ基因突变,该突变被认为是超过80%的葡萄膜黑色素瘤发病过程中的早期分子事件。因此,诊断为葡萄膜黑色素瘤转移至膀胱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1592/5612604/971e102ae845/CRIPA2017-4818537.001.jpg

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