用生物标志物检测活跃黑色素瘤并预测存活率
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By LabMedica International staff writers Posted on 07 Aug 2018 |
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图片：皮肤的恶性黑色素瘤（图片蒙国家癌症研究所惠赐）。
黑色素瘤是最危险的一种皮肤癌，来自日晒或日光浴机的紫外线辐射常给皮肤细胞造成不可修复的DNA损伤，诱发致使皮肤细胞快速复制的突变（基因缺陷），形成恶性肿瘤，这时就会产生癌变。
大量黑色素瘤患者在病灶原位复发或在转移部位复发，早期检测对于新疗法的效益最大化至关重要，新疗法有免疫检查点或特定基因的抑制剂。如果发现黑色素瘤并尽早治疗，总是可治愈的，但如果做不到，癌症就会进展，并扩散到身体其它部位，这样就难以治疗，而且可能致命。
英国设菲尔德大学(www.sheffield.ac.uk)的临床肿瘤医师及其同事探究了血液循环中无细胞DNA (cfDNA)的新型DNA拷贝数特征谱是否可作为活跃期疾病及存活率的生物标志物。从肿瘤诊所和皮肤病诊所招募黑色素瘤患者，从库存的血浆中分离出cfDNA。科研小组使用低覆盖度全基因组测序，创建了83名黑色素瘤患者的cfDNA的拷贝数特征谱，其中44人有活跃期疾病。
科学家发现，拷贝数畸变分值(CNAS)能有效区分活跃期疾病（风险比= 3.1），对活跃期疾病做多变量分析时，CNAS的75%分位仍是重要的区分因子。此外，针对疾病期、疾病状态（活跃还是已切除）、BRAF状态和cfDNA浓度做调整后，CNAS在75%分位以上的人死亡率高于分值较低者（风险比= 3.4）。
该研究的论文发表于2018年6月的《临床化学》(Clinical Chemistry)杂志。作者总结说，他们的研究表明，cfDNA拷贝数特征谱有望成为活跃期黑色素瘤及存活率的生物标志物。有必要对拷贝数特征谱作为疾病复发的早期标志物做纵向分析。
设菲尔德大学>>> www.sheffield.ac.uk
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