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肺腺癌中 EML4-ALK 外显子 19 融合变体的鉴定及艾乐替尼耐药。

Identification of a EML4-ALK exon 19 fusion variant in lung adenocarcinoma and alectinib resistance.

机构信息

Department of Radiation Oncology, Fudan University Shanghai Cancer Center, Shanghai, People's Republic of China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, People's Republic of China; Shanghai Key Laboratory of Radiation Oncology, Shanghai, People's Republic of China.

School of Biological Sciences, University of Nebraska, Lincoln, NE, USA.

出版信息

Lung Cancer. 2021 Oct;160:32-35. doi: 10.1016/j.lungcan.2021.07.020. Epub 2021 Aug 6.

Abstract

Alectinib, a highly selective inhibitor of anaplastic lymphoma kinase (ALK), has shown a high response rate and long progression-free survival in primary treatment of ALK-positive non-small-cell lung cancer (NSCLC). De novo resistance or refractory subtype is rare event. Herein, we identify the first case with serial next-generation sequencing (NGS) results that harboured a rare echinoderm microtubule associated protein like 4 gene (EML4) -ALK (breaking site at exon 19) fusion in a lung adenocarcinoma (LUAD) patient who acquired alectinib resistance rapidly (less than 3 months), followed by multi-drug resistance and short survival time.

摘要

艾乐替尼是一种高度选择性的间变性淋巴瘤激酶(ALK)抑制剂,在 ALK 阳性非小细胞肺癌(NSCLC)的一线治疗中显示出高应答率和长无进展生存期。新发耐药或难治亚型是罕见事件。在此,我们通过连续的下一代测序(NGS)结果首次鉴定了一例肺腺癌(LUAD)患者,该患者在不到 3 个月的时间内迅速获得了艾乐替尼耐药(不到 3 个月),随后出现多药耐药和短生存时间,该患者存在罕见的棘皮动物微管相关蛋白样 4 基因(EML4)-ALK(外显子 19 断裂点)融合。

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