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Abstract：
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：肢端黑色素瘤（AM）是中国最常见的恶性黑色素瘤亚型，预后很差.尽管在AM病例中经常报告创伤事件，AM的确切病因仍然难以捉摸。
方法：对南京鼓楼医院303例AM患者进行回顾性分析。根据疾病发作的不同模式，将患者分为四个不同的组：创伤类型（1型），色素痣类型（2型），色素痣外伤（3型），和色素痣自然溃疡（4型）。临床病理特征的差异，遗传改变,分析肿瘤免疫微环境(TIME)。
结果：创伤事件占AM病例的很大比例。在这些类别中，1型患者表现出最不利的病理特征和免疫抑制时间。在CCND1，RB1，FGF19和IL7R中观察到常见的拷贝数变异（CNV），而CDK4和TERT中的CNV在有创伤史（1型和3型）的患者中发生率较低。2型患者表现出最有利的病理特征和遗传特征，CCDN1和RB1CNVs的发生率最低，但CDK4CNVs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。3型和4型患者表现出更有利的整体微环境。
结论：本研究根据不同的临床发病特征对中国人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诊断，治疗,以及AM患者的预后。进一步的研究对于阐明控制创伤与AM之间关联的潜在机制至关重要。
方法：对南京鼓楼医院303例AM患者进行回顾性分析。根据疾病发作的不同模式，将患者分为四个不同的组：创伤类型（1型），色素痣类型（2型），色素痣外伤（3型），和色素痣自然溃疡（4型）。临床病理特征的差异，遗传改变,分析肿瘤免疫微环境(TIME)。
结果：创伤事件占AM病例的很大比例。在这些类别中，1型患者表现出最不利的病理特征和免疫抑制时间。在CCND1，RB1，FGF19和IL7R中观察到常见的拷贝数变异（CNV），而CDK4和TERT中的CNV在有创伤史（1型和3型）的患者中发生率较低。2型患者表现出最有利的病理特征和遗传特征，CCDN1和RB1CNVs的发生率最低，但CDK4CNVs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。3型和4型患者表现出更有利的整体微环境。
结论：本研究根据不同的临床发病特征对中国人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诊断，治疗,以及AM患者的预后。进一步的研究对于阐明控制创伤与AM之间关联的潜在机制至关重要。
