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EML4-ALK positive lung cancer is a medical term that refers to a primary malignant lung tumor whose cells contain a characteristic abnormal configuration of DNA wherein the echinoderm microtubule-associated protein-like 4 (EML4) gene is fused to the anaplastic lymphoma kinase (ALK) gene. This abnormal gene fusion leads to the production of a protein (EML4-ALK) that appears, in many cases, to promote and maintain the malignant behavior (phenotype of the cancer cells.[1] The transforming EML4-ALK fusion gene was first reported in non-small cell lung carcinoma (NSCLC) cell 2007 non-small-cell lung cancer. Eur J Cancer 2010; 46(10): 1773–1780. Contents 1 Classification 2 Epidemiology 3 Signs and symptoms 4 Causes 5 Pathophysiology 6 Diagnosis 7 Screening 8 Treatment 9 Prognosis 10 Research directions 11 References 12 External links Classification Most lung carcinomas containing the EML4-ALK gene fusion are adenocarcinomas. Some studies suggest that the papillary adenocarcinoma and the signet ring cell adenocarcinoma variants are more likely to carry this fused gene than other histological variants. Epidemiology EML4-ALK gene fusions occur almost exclusively in carcinomas arising in non-smokers.[2] EML4-ALK mutations rarely occur in combination with K-RAS or EGFR mutations. Signs and symptoms The signs and symptoms of this lung cancer variant seem to mimic those of the underlying major cell type. Causes Pathophysiology Diagnosis [3] Screening A 2011 consensus recommendation from 37 Canadian lung cancer specialists found that, as of June 2011, there was insufficient evidence to recommend routine screening of lung cancer speciments for EML4-ALK fusions, but that may soon change.[3] Treatment Prognosis Research directions References ^ Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 2007;448:561-6. ^ Martelli MP, Sozzi G, Hernandez L, et al. (February 2009). "EML4-ALK rearrangement in non-small cell lung cancer and non-tumor lung tissues". Am. J. Pathol. 174 (2): 661–70. doi:10.2353/ajpath.2009.080755. PMC 2630573. PMID 19147828.  ^ a b Ellis PM, Blais N, Soulieres D, et al. (June 2011). "A Systematic Review and Canadian Consensus Recommendations on the Use of Biomarkers in the Treatment of Non-small Cell Lung Cancer". J Thorac Oncol. doi:10.1097/JTO.0b013e318220cb8e. PMID 21709590.  External links [1] This oncology article is a stub. You can help Wikipedia by expanding it.v · d · e