EML4-ALK positive lung cancer
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 of the cancer cells.[1]
The transforming EML4-ALK fusion gene was first reported in non-small cell lung carcinoma (NSCLC) in 2007.[2]
Contents
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[3] 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.[4] About 4% of non-small-cell lung carcinomas involve an EML4-ALK tyrosine kinase fusion gene.[5]
EML4-ALK mutation rarely occurs 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
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Pathophysiology
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Diagnosis
See screening below.[6]
There is a companion diagnostic to detect the EML4-ALK fusion protein.
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 specimens for EML4-ALK fusions, but that may soon change.[6]
Treatment
Crizotinib is a targeted therapy (FDA approved in 2011) that targets the EML4/ALK fusion gene.
Alectinib was approved (for this) by Japan in 2014[7] and by US FDA in 2015.[8]
Prognosis
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Research directions
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References
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- ↑ 6.0 6.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Japan becomes first country to approve Roche’s alectinib for people with a specific form of advanced lung cancer
- ↑ New Oral Therapy To Treat ALK-Positive Lung Cancer. Dec 2015
External links
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