A non-functional 5' ALK fusion validated at the RNA level as a classical EML4-ALK that responds well to the novel ALK inhibitor ensartinib: A case report

一例经RNA水平验证为经典EML4-ALK融合基因但无功能的5' ALK融合基因,对新型ALK抑制剂恩沙替尼反应良好:病例报告

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Abstract

BACKGROUND: Currently, many targeted drugs are approved for treatment of ALK fusion non-small cell lung cancer. However, it has been previously assumed that patients with 5' non-oncogenic kinase (5' NOK) fusion detected by DNA next-generation sequencing (NGS) would not benefit from ALK inhibitors because of lack of an intact kinase domain. CASE DESCRIPTION: A novel 5' NOK fusion form, ALK-CYP27C1 (A19:C5), was detected by DNA NGS in surgical tissue specimens of a patient with recurrent lung adenosquamous carcinoma. The patient achieved 29 months of progression-free survival with ensartinib treatment. The results of RNA NGS from the same operative tissue identified EML4-ALK (E13:A20) fusion variant type I. CONCLUSION: This is the first case to provide real-world evidence of effective treatment of a patient with the 5' NOK fusion form at the DNA level but functional EML4-ALK at the RNA level, illustrating the need for RNA testing in 5' NOK patients.

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