An effective enrichment strategy for EML4-ALK fusion gene screening in patients with non-small cell lung cancer

Makoto Kobayashi, Tomohiro Sakakibara, Akira Inoue, Tatsuro Fukuhara, Hironobu Sasano, Masakazu Ichinose, Toshihiro Nukiwa

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Background: A novel fusion gene that comprises the echinoderm microtubule-associated protein-like 4 (EML4) and anaplastic lymphoma kinase (ALK) genes was recently identified in non-small cell lung cancer (NSCLC), particularly in adenocarcinoma. A specific ALK inhibitor has been shown to exert anti-tumor effects in NSCLC with the EML4-ALK fusion gene. Previous reports suggested an EML4-ALK incidence of approximately 5% in a pan-NSCLC population, with an increased frequency in younger patients, but an appropriate strategy for further selecting patients with the EML4-ALK fusion gene remains unknown. Methods: Patients, 55 years of age or younger, who were diagnosed with NSCLC without typical squamous cell carcinoma features at our institute were retrospectively evaluated. The tumor specimens were examined by immunohistochemistry for the EML4-ALK fusion gene and by polymerase chain reaction for epidermal growth factor receptor (EGFR) mutations. Results: Between January 2004 and September 2011, the EML4-ALK fusion gene was detected in 19.6% (9/46) of patients. The fusion gene incidence increased to 31% (9/29) when patients with EGFR mutations were excluded. The EML4-ALK fusion gene was further detected in 2 cases of undifferentiated cell carcinoma. Conclusions: EML4-ALK fusion gene examinations could be more effectively performed by selecting young NSCLC patients without EGFR mutations, whereas selection on the basis of a non-smoking or adenocarcinoma history, as reported in previous studies, may not correctly identify the patient groups with potential EML4-ALK fusion gene.

Original languageEnglish
Pages (from-to)49-56
Number of pages8
JournalRespiratory Investigation
Issue number1
Publication statusPublished - 2014 Jan


  • Driver gene mutation
  • EML4-ALK fusion gene
  • Genetic screening
  • Non-small cell lung cancer

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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