Cutaneous melanoma is becoming more prevalent in the United States and has the highest mortality among cutaneous malignancies. The majority of melanomas are diagnosed at an early stage and, as such, survival is generally favorable. However, there remains prognostic uncertainty among subsets of early- and intermediate-stage melanoma patients, some of whom go on to develop advanced disease while others remain disease-free. Melanoma gene expression profiling (GEP) has evolved with the notion to help bridge this gap and identify higher- or lower-risk patients to better tailor treatment and surveillance protocols. These tests seek to prognosticate melanomas independently of established AJCC 8 cancer staging and clinicopathologic features (sex, age, primary tumor location, thickness, ulceration, mitotic rate, lymphovascular invasion, microsatellites, and/or SLNB status). While there is a significant opportunity to improve the accuracy of melanoma prognostication and diagnosis, it is equally important to understand the current landscape of molecular profiling for melanoma treatment. Society guidelines currently do not recommend molecular testing outside of clinical trials for melanoma clinical decision making, citing insufficient high-quality evidence guiding indications for the testing and interpretation of results. The goal of this chapter is to review the available literature for GEP testing for melanoma diagnosis and prognostication and understand their place in current treatment paradigms.
在美国，皮肤黑色素瘤的发病率正逐渐上升，并成为皮肤恶性肿瘤中死亡率最高的类型。大多数黑色素瘤在早期阶段被诊断，因此患者生存率通常较为乐观。然而，在早期和中期黑色素瘤患者中，仍存在预后不确定性：部分患者会进展为晚期疾病，而另一些则保持无病状态。黑色素瘤基因表达谱检测的发展旨在填补这一空白，帮助识别高风险或低风险患者，从而更好地制定个体化治疗和监测方案。这些检测试图独立于现行的AJCC第八版癌症分期及临床病理特征（如性别、年龄、原发肿瘤位置、厚度、溃疡、有丝分裂率、淋巴血管侵犯、微卫星灶和/或前哨淋巴结活检状态）对黑色素瘤进行预后评估。尽管提高黑色素瘤预后和诊断准确性存在重要机遇，但同样关键的是了解当前黑色素瘤分子谱检测的治疗应用现状。目前学会指南不建议在临床试验之外将分子检测用于黑色素瘤临床决策，理由是指引检测适应症及结果解读的高质量证据尚不充分。本章旨在综述黑色素瘤诊断与预后基因表达谱检测的相关文献，并探讨其在当前治疗模式中的定位。
肿瘤(癌症)患者之家