Department of the Comprehensive Cancer Center, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China.
Cancer Med. 2024 Apr;13(7):e7137. doi: 10.1002/cam4.7137.
Acral melanoma (AM) is the most common subtype of malignant melanoma in China, with a very poor prognosis. Despite the frequent reporting of trauma events in AM cases, the precise etiology of AM remains elusive.
A retrospective analysis was conducted on a cohort of 303 AM patients at Nanjing Drum Tower Hospital. The patients were categorized into four distinct groups based on different patterns of disease onset: trauma type (Type 1), pigmented nevus type (Type 2), pigmented nevi with trauma (Type 3), and pigmented nevi with natural ulceration (Type 4). Differences in clinicopathological features, genetic alterations, and tumor immune microenvironment (TIME) were analyzed.
Traumatic events accounted for a large proportion of AM cases. Among these categories, Type 1 patients displayed the least favorable pathological traits and an immunosuppressive TIME. Common copy number variations (CNVs) were observed in CCND1, RB1, FGF19, and IL7R, while CNVs in CDK4 and TERT occurred less frequently in patients with a history of trauma (Type 1 and Type 3). Type 2 patients exhibited the most favorable pathological characteristics and genetic profiles, and demonstrated the lowest incidence of CCDN1 and RB1 CNVs but had the highest CDK4 CNVs. In contrast, the pathological behavior of Type 3 and Type 4 patients was in between Type 1 and Type 2. And patients in Type 3 and Type 4 displayed a more favorable overall microenvironment.
This study provides a clinical classification of Chinese AM based on diverse clinical onset characteristics and highlights the important role of trauma in AM. These findings may help to guide the diagnosis, treatment, and prognosis of AM patients. Further investigations are imperative to elucidate the underlying mechanisms governing the association between trauma and AM.
肢端黑色素瘤（AM）是中国最常见的恶性黑色素瘤亚型，预后极差。尽管 AM 病例常报告有创伤事件，但 AM 的确切病因仍不清楚。
对南京鼓楼医院 303 例 AM 患者进行回顾性分析。根据不同的发病模式，将患者分为四组：创伤型（1 型）、色素痣型（2 型）、有创伤的色素痣（3 型）和有自然溃疡的色素痣（4 型）。分析了临床病理特征、遗传改变和肿瘤免疫微环境（TIME）的差异。
创伤性事件在 AM 病例中占很大比例。在这些类型中，1 型患者表现出最差的病理特征和免疫抑制性 TIME。观察到 CCND1、RB1、FGF19 和 IL7R 常见的拷贝数变异（CNVs），而 CDK4 和 TERT 的 CNVs 在有创伤史的患者（1 型和 3 型）中发生频率较低。2 型患者表现出最有利的病理特征和遗传谱，CCDN1 和 RB1 CNVs 的发生率最低，但 CDK4 CNVs 的发生率最高。相比之下，3 型和 4 型患者的病理行为介于 1 型和 2 型之间。且 3 型和 4 型患者的整体微环境更有利。
本研究根据不同的临床发病特征对中国 AM 进行了临床分类，并强调了创伤在 AM 中的重要作用。这些发现可能有助于指导 AM 患者的诊断、治疗和预后。进一步的研究对于阐明创伤与 AM 之间的关联的潜在机制至关重要。
