Department of Surgical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania; Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania.
Department of Surgical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
J Surg Res. 2020 Oct;254:147-153. doi: 10.1016/j.jss.2020.04.021. Epub 2020 May 21.
For the past 30 y, the incidence rate of malignant melanoma has risen steadily. Ultraviolet radiation exposure has been identified as the most prevalent modifiable risk factor for melanoma. Here, next-generation sequencing was used to analyze the relationship between multiple sun exposure factors and select cancer-related genes to determine the relationship of sun exposure on the molecular profiles of melanomas.
The collection and analysis of study samples were approved by the institutional review board. The patient cohort consisted of 173 patients whose melanoma tissue samples underwent next-generation sequencing analysis for somatic mutations of 50 cancer-related genes. Univariate and multivariate analyses were conducted.
Patients with a history of blistering sunburn had an absolute mutation incidence of 1.67 mutations per patient, compared with patients without a history of blistering sunburn, who had an absolute mutation incidence of 1.16 mutations per patient (P = 0.028). A BRAF mutation was found in more tumors of patients who reported visiting a tanning salon (57.14%), compared with those who had not (18.75%; P = 0.0463). Patients with a previous history of skin cancer were more likely to have a CDKN2A mutation (20.83%), compared with those without a previous history of skin cancer (7.76%; P = 0.0292).
The trends seen in the molecular profiles of melanomas with respect to various sun exposure factors suggest that sun exposure impacts genetic makeup. Considering the increase in absolute mutation incidence in patients with a history of blistering sunburn suggests that additional genes may contribute to the pathology of malignancy. Future studies will use the unique molecular profiles of melanomas to personalize patient treatments.
在过去的 30 年中，恶性黑色素瘤的发病率稳步上升。紫外线辐射暴露已被确定为黑色素瘤最常见的可改变的危险因素。在这里，我们使用下一代测序来分析多种阳光暴露因素与选择癌症相关基因之间的关系，以确定阳光暴露对黑色素瘤分子谱的影响。
本研究样本的收集和分析得到了机构审查委员会的批准。该患者队列包括 173 名患者，他们的黑色素瘤组织样本接受了 50 个癌症相关基因的体细胞突变下一代测序分析。进行了单变量和多变量分析。
有水泡样晒伤史的患者每人绝对突变发生率为 1.67 个突变，而无水泡样晒伤史的患者每人绝对突变发生率为 1.16 个突变（P=0.028）。有日光浴沙龙就诊史的患者中发现 BRAF 突变的肿瘤比例（57.14%）高于无日光浴沙龙就诊史的患者（18.75%；P=0.0463）。有皮肤癌既往史的患者更有可能发生 CDKN2A 突变（20.83%），而无皮肤癌既往史的患者则为 7.76%（P=0.0292）。
各种阳光暴露因素对黑色素瘤分子谱的影响趋势表明，阳光暴露会影响遗传构成。考虑到有水泡样晒伤史的患者绝对突变发生率增加，表明可能有其他基因参与恶性肿瘤的发病机制。未来的研究将利用黑色素瘤独特的分子谱来为患者制定个体化的治疗方案。
