Non-invasive urine testing of EGFR activating mutation and T790M resistance mutation in non-small cell lung cancerReportar como inadecuado

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Experimental Hematology and Oncology

, 5:24

First Online: 08 August 2016Received: 20 April 2016Accepted: 29 July 2016DOI: 10.1186-s40164-016-0052-3

Cite this article as: Berz, D., Raymond, V.M., Garst, J.H. et al. Exp Hematol Oncol 2015 5: 24. doi:10.1186-s40164-016-0052-3


BackgroundThe increasing understanding of non-small cell lung cancer NSCLC biology over the last two decades has led to the identification of multiple molecular targets. This led to the development of multiple targeted therapies in the primary and secondary resistance setting and the epidermal growth factor receptor EGFR gene remains the most frequently observed molecular target in NSCLC. Tissue biopsies remain the standard for the identification of such EGFR mutations. Obtaining serial tissue biopsies, especially in the secondary resistance setting is associated with multiple medical and logistical challenges. Utilizing circulating tumor DNA ctDNA fragments for molecular analysis can overcome these challenges and aid in therapeutic decision-making.

Case presentationHere we present a present a 72-year-old Korean woman with metastatic, EGFR L858R mutated bronchogenic adenocarcinoma. She developed skeletal progression on treatment with first and second generation tyrosine kinase inhibitors TKIs. Repeated biopsies failed to provide informative molecular test results. A novel urine ctDNA assay was utilized and confirmed T790M positive status. The patient was started on a third generation TKI, which led to a measurable clinical response.

ConclusionsUtilization of urine liquid biopsies for EGFR diagnostics are feasible and provided critical clinical information in this patient’s case. Urine liquid biopsy represents a viable alternative to tissue biopsy, particularly in the secondary resistance setting, when tissue is not available for molecular testing.

KeywordsctDNA Circulating tumor DNA Lung cancer EGFR Targeted therapy Liquid biopsy Cell free DNA Diagnostics Urine AbbreviationsEGFRepidermal growth factor

ctDNAcirculating tumor DNA

NSCLCnon-small cell lung cancer

TKItyrosine kinase inhibitor


PET-CTpositron emission tomography–computed tomography

GEqgenome equivalents


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Autor: David Berz - Victoria M. Raymond - Jordan H. Garst - Mark G. Erlander


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