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Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer.
Wen M
,
Wang X
,
Sun Y
,
Xia J
,
Fan L
,
Xing H
,
Zhang Z
,
Li X
.
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PURPOSE: Echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features. We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC).
METHODS: We enrolled 694 Chinese patients with NSCLC for analysis. EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system.
RESULTS: Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. In continuity correction χ (2) test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. A total of 147 (21.18%) patients had EGFR mutations. In concordance with previous reports, EGFR mutation was correlated with age, smoking status, histology, and clinical stage, whereas patient age was not significantly associated with EGFR mutation. Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations.
CONCLUSION: EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC. Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study. The EGFR mutations and the EML4-ALK fusion genes are coexistent.
Figure 1. Representative results of patients with coalterations.Notes: Amplification plots demonstrate the typical results of EGFR mutation and EML4-ALK fusion of patient 1 (A and B), patient 2 (C and D), and patient 3 (E and F). A, C, and E demonstrate the results of exon 19 deletion mutation, exon 21 L858R point mutation, and exon 18 G719X point mutation, respectively. B, D, and F demonstrate the results of EML4-ALK fusion, respectively.Abbreviations:
EGFR, epidermal growth factor receptor; EML4-ALK, echinoderm microtubule-associated protein-like 4–anaplastic lymphoma kinase.
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