Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Thorac Cancer. 2018 Oct;9(10):1327-1332. doi: 10.1111/1759-7714.12834. Epub 2018 Aug 21.
Common gene fusion of the ALK gene is fusion of the ALK tyrosine kinase area and the 5'end of EML4. Seventeen EML4-ALK fusion variants have been reported. Herein, we report a novel EML4-ALK variant detected by next-generation sequencing in a 36-year-old female lung adenocarcinoma patient who experienced disease progression after six months of alectinib treatment. Second generation sequencing revealed an EML4-ALK fusion variant in which intron 19 of EML4 was fused to exon 20 of ALK. This is the first case of EML4-ALK (E19: A20) fusion to be reported. Alectinib may show unsatisfactory therapeutic effects for this kind of ALK fusion.
ALK 基因的常见基因融合是 ALK 酪氨酸激酶区域和 EML4 的 5'端融合。已经报道了十七种 EML4-ALK 融合变体。在此,我们报告了一例通过下一代测序检测到的新的 EML4-ALK 变体,该变体存在于一名 36 岁的女性肺腺癌患者中,该患者在接受阿来替尼治疗六个月后出现疾病进展。二代测序显示 EML4 的内含子 19 与 ALK 的外显子 20 融合。这是首例报道的 EML4-ALK(E19:A20)融合。阿来替尼可能对这种 ALK 融合显示出不理想的治疗效果。