The liquid biopsy: a tool for a combined diagnostic and theranostic approach for care of a patient with late-stage lung carcinoma presenting with bilateral ocular metastases.

This article reports the diagnosis of a NSCLC in a non-smoker patient with bilateral ocular metastases after detection of a deletion in exon 19 of EGFR when using plasma DNA. Detection of this mutation thereby resulted in treatment with TKI. Without histological analysis, the origin of the primary ocular metastasis was uncertain. In this context, a LB showing an activating mutation in EGFR and circulating tumor cells positive for TTF1 led to the diagnosis of NSCLC and targeted therapy. Expert commentary: When no tumor tissue sample is available a LB can be used to diagnose for metastatic NSCLC, when a mutation in EGFR is identified, and with subsequent delivery of targeted treatment for this mutation. While a tissue biopsy is still the gold standard approach for the diagnosis of a NSCLC and for identification of activating mutations that can be treated with targeted therapy, this case report shows that LB can exceptionally provide both a diagnosis of the primitive tumor and indicate appropriate therapies based on a molecular analysis. PMID: 29069959 [PubMed - as supplied by publisher]
Source: Expert Review of Anticancer Therapy - Category: Cancer & Oncology Tags: Expert Rev Anticancer Ther Source Type: research