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A Recurrent Small Cell Lung Carcinoma Harboring an EML4-ALK Fusion Mutation with Sustained Response to Ensartinib: A
Hao Jiang1, Tengfei Zhu1, Zenghao Chang1
1Department of Thoracic Surgery, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, No. 651 Dongfeng East Road, Yuexiu District, Guangzhou 510060, China.
Abstract:
Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumor. Lung cancer patients with ALK and EML4 fusions respond significantly to ALK inhibitors. The EML4-ALK fusion gene mutation is the result of an inversion of chromosome 2, which juxtaposes the 5 end of the EML4 gene with the 3 end of the ALK gene. In SCLC, the frequency of fusion genes is very low, and to the best of our knowledge, only four cases of ALK fusion gene mutations in SCLC have been reported. In this report, we describe the treatment of a 74-year-old female patient with SCLC who developed recurrence of hilar lymph node metastasis three years after surgical resection. Postoperative NGS showed that this patient is a SCLC patient harboring a rare EML4-ALK fusion mutation, and a satisfactory 43-month overall survival (OS) was achieved after treatment with ensartinib targeting the EML4-ALK fusion gene mutation. The ALK-TKI may be a new treatment option for these patients. This article provides a therapeutic reference.
Insights
This study reports a rare EML4-ALK fusion mutation in small cell lung cancer (SCLC). Targeted therapy with ensartinib led to a 43-month overall survival, suggesting ALK-TKI as a potential treatment for SCLC patients with this mutation.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumor with limited treatment options.
- Anaplastic lymphoma kinase (ALK) and echinoderm microtubule-associated protein 4 (EML4) fusions are known drivers in some lung cancers, responding to ALK inhibitors.
- Fusion genes are infrequently observed in SCLC, with only four prior cases of ALK fusion mutations reported.
Observation:
- A 74-year-old female SCLC patient experienced recurrence of hilar lymph node metastasis three years post-surgery.
- Next-generation sequencing (NGS) identified a rare EML4-ALK fusion mutation in the patient's SCLC.
- The patient received ensartinib, an ALK tyrosine kinase inhibitor (TKI), targeting the EML4-ALK fusion.
Findings:
- Treatment with ensartinib resulted in a 43-month overall survival (OS) for the SCLC patient.
- This outcome demonstrates a positive response to ALK-targeted therapy in a rare SCLC fusion mutation case.
- The EML4-ALK fusion arises from an inversion on chromosome 2, juxtaposing EML4 and ALK gene segments.
Implications:
- Targeted therapy with ALK-TKIs like ensartinib may represent a novel treatment strategy for SCLC patients with EML4-ALK fusion mutations.
- This case highlights the importance of comprehensive genomic profiling in SCLC to identify actionable mutations.
- The findings provide a therapeutic reference and support further investigation of ALK-TKIs in this SCLC subtype.
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