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用生物标志物检测活跃黑色素瘤并预测存活率

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)。
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,CNAS75%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,CNAS75%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20186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。

Related Links:

设菲尔德大学>>> www.sheffield.ac.uk



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