Supplementary Material for: <b><i>TERT</i></b> Promoter Mutational Status in the Management of Cutaneous Melanoma: Comparison with Sentinel Lymph Node Biopsy
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<b><i>Background:</i></b> While <i>BRAF</i> mutations seem important for early melanomagenesis, mutations in the <i>TERT</i> promoter (<i>TERT</i>p) are related to metastasis. Yet, in conventional melanoma management, risk stratification does not depend on molecular biomarkers that can indicate the stage of progression, but rather on clinical, pathological, sentinel lymph node (SLN), and radiologic evaluation. The aim of this work was to evaluate the frequency and prognostic impact of <i>TERT</i>p mutations, comparing their predictive value to those of conventional procedures in melanoma management. <b><i>Methods:</i></b> Mutational analysis of a series of 91 cases was performed. The correlations between <i>TERT</i>p and <i>BRAF</i> mutational status and clinicopathological features were assessed. <b><i>Results:</i></b> The mutation rate was 33% for <i>TERT</i>p and 30% for <i>BRAF</i>. There was 68% concordance between primary and metastatic samples for <i>TERT</i>p mutations and 92% for <i>BRAF</i> mutations. <i>TERT</i>p mutations are significantly associated with the presence of <i>BRAF</i> mutations, features of worse prognosis, and a reduced disease-free survival. Also, <i>TERT</i>p mutational status was similar to SLN biopsy as a predictive factor of cutaneous melanoma recurrence and metastasis. <b><i>Conclusions:</i></b> The predictive value of <i>TERT</i>p mutations may be similar to that of SLN biopsy and its integration in the management algorithm of melanoma patients should be considered.
<b><i>背景：</i></b> 尽管<i>BRAF</i>突变（BRAF）在黑色素瘤早期发生过程中发挥关键作用，但<i>TERT</i>启动子（TERTp）突变与肿瘤转移密切相关。然而在常规黑色素瘤临床管理中，风险分层并不依赖于可提示疾病进展阶段的分子生物标志物，而是依据临床评估、病理学检查、前哨淋巴结（sentinel lymph node, SLN）活检及影像学检查结果。本研究旨在评估<i>TERT</i>启动子突变的发生频率及其预后价值，并对比其与常规诊疗手段在黑色素瘤管理中的预测效能。<b><i>方法：</i></b> 本研究对91例患者样本进行了突变分析，评估了<i>TERT</i>启动子与<i>BRAF</i>的突变状态与临床病理特征之间的相关性。<b><i>结果：</i></b> <i>TERT</i>启动子突变发生率为33%，<i>BRAF</i>突变发生率为30%。<i>TERT</i>启动子突变的原发灶与转移灶样本一致性达68%，<i>BRAF</i>突变的样本一致性则为92%。<i>TERT</i>启动子突变与<i>BRAF</i>突变的存在、不良预后特征以及无病生存期缩短显著相关。此外，<i>TERT</i>启动子突变状态作为皮肤黑色素瘤复发与转移的预测因子，其效能与前哨淋巴结活检相当。<b><i>结论：</i></b> <i>TERT</i>启动子突变的预测价值或与前哨淋巴结活检相近，因此应考虑将其纳入黑色素瘤患者的诊疗管理流程中。
