Case report: Later onset of NRAS-mutant metastatic melanoma in a patient with a partially-excised giant congenital melanocytic nevus.

病例报告 ： 患有部分切除的巨大先天性黑素细胞痣的患者 NRAS 突变转移性黑色素瘤的晚期发作。

• 影响指数: 5.058
• 发表时间: 2022
• 来源期刊: Front Med (Lausanne)
• DOI: 10.3389/fmed.2022.1086473
• PMID: 36569151
• 文章类型: Case Reports
• 作者列表: Costa BA,Zibara V,Singh V,Hamid O,Gandhi S,Moy AP,Betof Warner AS

关键词: MDM2 amplification; NRAS mutation; congenital melanocytic nevi; giant nevus; metastatic melanoma

Abstract

Despite recent advances in treatment and surveillance, metastatic melanoma still carries a poor prognosis. Large/giant congenital melanocytic nevi (CMNs) constitute a known risk factor for the condition, with the greatest risk for malignant transformation thought to be during childhood (median age at diagnosis of 3 years in a previous cohort). Herein, we present the case of a 30-year-old male who, after undergoing multiple excision/grafting procedures for a giant CMN as a child, was diagnosed with an NRAS-mutant, MDM2-amplified metastatic melanoma more than 20 years later. Response to ipilimumab/nivolumab immunotherapy, cisplatin/vinblastine/temozolomide chemotherapy, and nivolumab/relatlimab immunotherapy was poor. This case highlights the importance of lifetime monitoring with once-yearly dermatological examination (including lymph node palpation) in large/giant CMN patients, as well as the need for further clinical trials evaluating novel therapies for NRAS-mutant melanoma.

摘要

尽管最近在治疗和监测方面取得了进展，转移性黑色素瘤仍有不良预后.大/巨大的先天性黑素细胞痣（CMNs）构成了该疾病的已知危险因素，恶性转化的最大风险被认为是在儿童期（在之前的队列中，诊断的中位年龄为3岁）。在这里，我们介绍一个30岁的男性，在一个巨大的CMN小时候接受了多次切除/移植手术后，被诊断出患有NRAS突变体,20多年后，MDM2扩增转移性黑色素瘤。对ipilimumab/nivolumab免疫疗法的反应，顺铂/长春碱/替莫唑胺化疗，nivolumab/relatlimab免疫治疗效果不佳.该病例强调了大型/大型CMN患者每年进行一次皮肤科检查（包括淋巴结触诊）的终生监测的重要性。以及需要进一步的临床试验来评估NRAS突变黑色素瘤的新疗法。