Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; Medical Faculty, University of Porto, Porto, Portugal; Dermatology Department, Centro Hospitalar Vila Nova de Gaia, Vila Nova de Gaia, Portugal.
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
J Am Acad Dermatol. 2019 Mar;80(3):660-669.e6. doi: 10.1016/j.jaad.2018.08.032. Epub 2018 Aug 28.
Telomerase reverse transcriptase gene (TERT) promoter (TERTp) mutations have been reported as potential predictors of poor prognosis in several cancers, but the prognostic value of TERTp mutations for cutaneous squamous cell carcinoma (cSCC) has not been determined.
To evaluate the frequency of TERTp mutations and correlate it with clinicopathologic features and patient outcome.
We performed genetic profiling of TERTp mutations in a retrospective series of cSCCs. The predictive value of TERTp mutations and clinicopathologic parameters were assessed by using logistic regression models.
A total of 152 cSCCs from 122 patients were analyzed for TERTp mutations; the mutation rate was 31.6% (48 of 152), and it was higher in invasive cSCC (42 of 121 [34.7%]) than in in situ cSCC (6 of 31 [19.4%]). Age older than 75 years (odds ratio [OR], 14.84; P = .013] and TERTp mutation (OR, 8.11; P = .002) were independent predictors of local recurrence. TERTp mutation (OR, 15.89; P = .022) was independently associated with higher risk of lymph node metastasis.
The restricted number of metastatic cases.
TERTp mutations may prove to be a molecular biomarker with prognostic significance in invasive cSCC, but larger studies are needed.
端粒酶逆转录酶基因（TERT）启动子（TERTp）突变已被报道为几种癌症中预后不良的潜在预测因子，但 TERTp 突变对皮肤鳞状细胞癌（cSCC）的预后价值尚未确定。
评估 TERTp 突变的频率，并将其与临床病理特征和患者结局相关联。
我们对一系列回顾性 cSCC 进行了 TERTp 突变的基因谱分析。通过逻辑回归模型评估 TERTp 突变和临床病理参数的预测价值。
共分析了 122 例患者的 152 例 cSCC 中 TERTp 突变；突变率为 31.6%（48/152），侵袭性 cSCC（42/121[34.7%]）高于原位 cSCC（6/31[19.4%]）。年龄大于 75 岁（比值比[OR]，14.84；P=0.013）和 TERTp 突变（OR，8.11；P=0.002）是局部复发的独立预测因子。TERTp 突变（OR，15.89；P=0.022）与淋巴结转移风险增加独立相关。
转移性病例数量有限。
TERTp 突变可能被证明是侵袭性 cSCC 中具有预后意义的分子生物标志物，但需要更大的研究。
