Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8453600 | Lung Cancer | 2018 | 4 Pages |
Abstract
Non-small cell lung cancer (NSCLC) has emerged as a paradigm for clinical application of precision medicine as optimal therapy is commonly chosen based on genomic biomarkers identified in a patient's tumor sample. Recurrent driver alterations are well described, however, a need to continually identify rare variants remains clinically relevant. We identified an incident case of advanced NSCLC with a PDGFR-α N848âK activation loop mutation with no other concurrent oncogenic drivers. Amino acid sequence alignment confirmed homology to the imatinib-sensitive KIT N822âK activation loop mutation observed in GIST. The patient achieved a 2-year response to single agent imatinib that is ongoing. While PDGFR-α N848âK is rare among public sequencing databases our cases strongly suggests functional relevance and highlights the importance of studying rare variants in NSCLC.
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Authors
Samuel J. Klempner, Kyle Gowen, Thomas K. Lee, Viola W. Zhu, Alexa B. Schrock, Vincent A. Miller, Siraj M. Ali, Sai-Hong Ignatius Ou,