High-resolution RNA-sequencing reveals TRIM33::CSDE1 gene fusion in metastasizing vulvar melanoma.

IF 1.5 4区医学 Q3 DERMATOLOGY Melanoma Research Pub Date : 2024-09-18 DOI:10.1097/CMR.0000000000001005

Magdalena Stawiarz, Mai P Hoang, Artur Kowalik

引用次数: 0

Abstract

Although mucosal melanomas are rare and constitute approximately 1.4% of all melanomas, the prognosis of patients with mucosal melanoma is poorer in comparison to cutaneous melanomas. Despite their poor prognosis, limited treatment options are currently available for patients with advanced disease. These noncutaneous subtypes of melanomas are not responding to treatment used for cutaneous melanomas. We performed RNA sequencing on four mucosal melanoma samples comprising of two primary tumors and two corresponding metastases. A TRIM33::CSDE1 fusion was detected in both the primary tumor and metastasis of a vulvar melanoma, supporting the fusion to be a driver in oncogenesis. Vulvar melanoma is the third tumor to have been reported to harbor TRIM33::CSDE1 fusion. Detecting fusions may have a clinically significant impact in patients with advanced mucosal melanoma who have failed front-line immunotherapy.

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高分辨率 RNA 测序发现转移性外阴黑色素瘤中存在 TRIM33::CSDE1 基因融合。

虽然粘膜黑色素瘤很罕见，约占所有黑色素瘤的 1.4%，但与皮肤黑色素瘤相比，粘膜黑色素瘤患者的预后较差。尽管预后较差，但目前对晚期患者的治疗方案有限。这些非皮肤亚型黑色素瘤对用于皮肤黑色素瘤的治疗没有反应。我们对四个粘膜黑色素瘤样本进行了 RNA 测序，其中包括两个原发肿瘤和两个相应的转移瘤。在一个外阴黑色素瘤的原发肿瘤和转移瘤中都检测到了TRIM33::CSDE1融合，支持该融合是肿瘤发生的驱动因素。外阴黑色素瘤是第三个被报道存在TRIM33::CSDE1融合的肿瘤。对于一线免疫疗法失败的晚期粘膜黑色素瘤患者来说，检测融合可能会产生重大的临床影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Melanoma Research 医学-皮肤病学

CiteScore

3.40

自引率

4.50%

发文量

139

审稿时长

6-12 weeks

期刊介绍： Melanoma Research is a well established international forum for the dissemination of new findings relating to melanoma. The aim of the Journal is to promote the level of informational exchange between those engaged in the field. Melanoma Research aims to encourage an informed and balanced view of experimental and clinical research and extend and stimulate communication and exchange of knowledge between investigators with differing areas of expertise. This will foster the development of translational research. The reporting of new clinical results and the effect and toxicity of new therapeutic agents and immunotherapy will be given emphasis by rapid publication of Short Communications. Thus, Melanoma Research seeks to present a coherent and up-to-date account of all aspects of investigations pertinent to melanoma. Consequently the scope of the Journal is broad, embracing the entire range of studies from fundamental and applied research in such subject areas as genetics, molecular biology, biochemistry, cell biology, photobiology, pathology, immunology, and advances in clinical oncology influencing the prevention, diagnosis and treatment of melanoma.