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Liquid Biopsy for Detection of T790M Mutation in Patient with EGFR-Mutant Non-Small Cell Lung Cancer with Leptomeningeal Metastases: A Case Report

par Derasse, M.;D'Haene, Nicky ;Berghmans, Thierry ;Grigoriu, Bogdan Dragos
Référence Annals of clinical research, 7, 2361
Publication Publié, 2022-12-01

Article révisé par les pairs

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Résumé :

Introduction: Liquid biopsy is increasingly used in management of Non-Small Cell Lung Cancer(NSCLC), especially when tissue availability tumor is limited. This especially true in the context ofLeptomeningeal metastases. The circulating cell-free DNA from plasma or cerebrospinal fluid mayprovide genetic material needed for the diagnosis and management of patients with LM progression.Case Report: We present the case of a 38-year-old Chinese female with a stage IVb NSCLC EpidermalGrowth Factor Receptor (EGFR)- mutant with LM progression under Afatinib. A Droplet DigitalPCR showed the presence of an EGFR exon 19 deletion and the T790M resistance mutation onboth on plasma and CSF. Osimertinib resulted a rapid improvement in the clinical and neurologicalcondition.Conclusion: Analysis of cfDNA can provide valuable data for management of EGFR-mutant NSCLCprogression under tyrosine kinase inhibitors.