德国一小群非小细胞肺癌患者中EML4-ALK易位的流行病学研究
Epidemiology of EML4-ALK translocations in a small, German non-small-cell lung cancer patient cohort.
作者信息
Schildgen Verena, Lochi Vincenza, Lüsebrink Jessica, Brockmann Michael, Schildgen Oliver
机构信息
Kliniken der Stadt Köln gGmbH, Klinikum der Privaten Universität Witten/Herdecke mit Sitz in Köln, Institut für Pathologie, Ostmerheimer Str. 200, D-51109 Köln, Germany.
出版信息
Per Med. 2012 Nov;9(8):801-803. doi: 10.2217/pme.12.94.
BACKGROUND
Fusions and translocations of the ALK gene are an important genetic marker in different types of cancer and are therapy relevant, especially in lung cancer, as they predict the patient's response to crizotinib therapy. Thereby, EML4-ALK is assumed to be the most frequent fusion of ALK in lung cancer, although ALK is known to be able to fuse with approximately 20 different genes.
PATIENTS & METHODS: Formalin-fixed paraffin-embedded lung tissue from non-small-cell lung cancer patients previously tested positive for EML4-ALK were reanalyzed with three different FISH probe systems that are commercially available.
RESULTS
We describe a short series of patients with ALK translocations in which a surprisingly high percentage (66%) of non-EML4-ALK fusions were identified in non-small-cell lung cancer despite an estimated low percentage (˜20%) of such translocations.
CONCLUSION
Depending on the diagnostic method used, those patients could receive a false-negative diagnosis and would miss the chance to benefit from novel crizotinib therapy.
背景
ALK基因的融合和易位是不同类型癌症中的重要遗传标志物，且与治疗相关，尤其在肺癌中，因为它们可预测患者对克唑替尼治疗的反应。因此，虽然已知ALK能够与大约20种不同基因融合，但EML4-ALK被认为是肺癌中最常见的ALK融合形式。
患者与方法
使用三种市售的不同荧光原位杂交（FISH）探针系统，对先前检测EML4-ALK呈阳性的非小细胞肺癌患者的福尔马林固定石蜡包埋肺组织进行重新分析。
结果
我们描述了一小系列ALK易位患者，其中在非小细胞肺癌中鉴定出了比例惊人之高（66%）的非EML4-ALK融合，尽管据估计此类易位的比例较低（约20%）。
结论
取决于所使用的诊断方法，这些患者可能会得到假阴性诊断，从而错失从新型克唑替尼治疗中获益的机会。
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