Melanoma is the most aggressive form of skin cancer, causing more than 70% of skin cancer-related deaths and accounting for 3% of new cancer cases estimated in Italy (http://www.registri-tumori.it). According to the Italian Cancer Society, an annual average incidence of 12.5 new melanoma diagnoses per 100,000 males and 13.1 per 100,000 females were registered.¹ It is considered to be the second most frequent neoplasm in youth, with global incidence rates continuously increasing over the last few decades, resulting in a poor prognosis with an extremely low 5-year survival rate in the case of metastatic tumors.^2,3 Cutaneous melanoma can be divided into four major subtypes: nodular melanoma, superficial spreading, lentigo maligna melanoma (LMM), and acral lentiginous.⁴ The melanoma onset is caused by complex interactions between genetic, phenotypic, and environmental factors.^5,6 Melanomas have been shown to be genetically and phenotypically heterogeneous tumors harboring different genetic alterations in three main oncogenes: BRAF, NRAS, and c-KIT.⁷ Large-scale analysis of melanoma exome data discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which, RAC1, PPP6C, and STK19, harbored potentially targetable mutations. Moreover, RB and p53 pathways are deregulated in this type of malignancy.⁸ Mutations in genes encoding the SWI/SNF chromatin-remodeling enzymes such as ARID1A (BAF250A/SMARCF1), ARID1B (BAF250B), ARID2 (BAF200), and SMARCA4 (BRG1) are involved in melanoma, in addition to other chromatin organization/histone modification proteins (EZH1,EZH2,SETD2, and TRRAP).⁸

中文翻译：

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血浆 PD-1 水平能否预测转移性黑色素瘤患者肿瘤浸润淋巴细胞的存在和效率？

黑色素瘤是最具侵袭性的皮肤癌，导致 70% 以上的皮肤癌相关死亡，并占意大利估计新发癌症病例的 3% (http://www.registri-tumori.it)。根据意大利癌症协会的数据，每年平均每 10 万名男性新诊断出 12.5 例黑色素瘤，每 10 万名女性新诊断出 13.1 例黑色素瘤。¹它被认为是青年中第二常见的肿瘤，过去几十年来全球发病率不断上升，导致转移性肿瘤预后不良，5 年生存率极低。^2,3皮肤黑色素瘤可分为四种主要亚型：结节性黑色素瘤、浅表扩散性黑色素瘤、恶性雀斑样黑色素瘤 (LMM) 和肢端雀斑样痣。⁴黑色素瘤的发病是由遗传、表型和环境因素之间复杂的相互作用引起的。^5,6黑色素瘤已被证明是遗传和表型异质性肿瘤，在三个主要癌基因中具有不同的遗传改变：BRAF、NRAS和c-KIT。⁷对黑色素瘤外显子组数据的大规模分析发现了 6 个新的黑色素瘤基因（PPP6C、RAC1、SNX31、TACC1、STK19和ARID2 ），其中RAC1、PPP6C和STK19三个基因具有潜在的可靶向突变。此外，RB 和 p53 通路在这种类型的恶性肿瘤中失调。⁸除了其他染色质组织/组蛋白外，编码 SWI/SNF 染色质重塑酶的基因突变也与黑色素瘤有关，例如 ARID1A (BAF250A/SMARCF1)、ARID1B (BAF250B)、ARID2 (BAF200) 和 SMARCA4 (BRG1)修饰蛋白（EZH1、EZH2、SETD2 和 TRRAP）。⁸