scholarly journals Molecular triage of lung cancer for targeted therapy

Author(s):  
Tanushree Mukherjee

The type of lung cancer as per histology is small cell and non-small cell carcinoma which includes adenocarcinoma with variants, squamous carcinoma. Biomolecular testing[1-3] includes tests of genes or proteins required to analyze which can be targeted with therapy to treat the patients. Molecular diagnostics-guided targeted therapies have become a standard treatment for patients with lung cancer. Driver genetic alterations such as epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are currently used as predictive biomarkers for EGFR tyrosine kinase inhibitors and ALK inhibitors, respectively.

Author(s):  
Christoforos Astaras ◽  
Adrienne Bettini ◽  
Daniel C. Betticher

In advanced non-small cell lung cancer (NSCLC), epidermal growth factor receptor (EGFR) mutations are one of the most frequent oncogenic drivers. They confer a favorable prognosis and strongly predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs). Over the last decades, several EGFR genetic alterations, common and uncommon mutations, have been described in exons 18−21. Common mutations are exon 19 deletions (most frequently E746-A750) and exon 21 L858R substitution. Uncommon mutations include exon 18 G719X, exon 20 S768l, exon 21 L861Q and many other rare ones. This report describes the case of a 55-year-old woman with a newly diagnosed metastatic lung adenocarcinoma harboring two rare EGFR mutations and showing sustained response to osimertinib.


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