Case report: Liquid biopsy, the sooner the better?

Autor: Thomas QD; Department of Medical Oncology, Montpellier Cancer Institute (ICM), Montpellier, France.; Oncogenic Pathways in Lung Cancer, Montpellier Cancer Research Institute (IRCM), University of Montpellier (UM), Montpellier, France., Colard-Thomas J; Department of Medical Oncology, Montpellier Cancer Institute (ICM), Montpellier, France., Delansay D; Department of Medical Oncology, Montpellier Cancer Institute (ICM), Montpellier, France., Leenhardt F; Oncogenic Pathways in Lung Cancer, Montpellier Cancer Research Institute (IRCM), University of Montpellier (UM), Montpellier, France.; Pharmacy department, Montpellier Cancer institute (ICM), Montpellier, France., Solassol J; Department of Pathology, Montpellier University Hospital (CHU) Montpellier, Arnaud de Villeneuve Hospital, Montpellier, France., Vendrell JA; Department of Pathology, Montpellier University Hospital (CHU) Montpellier, Arnaud de Villeneuve Hospital, Montpellier, France., Quantin X; Department of Medical Oncology, Montpellier Cancer Institute (ICM), Montpellier, France.; Oncogenic Pathways in Lung Cancer, Montpellier Cancer Research Institute (IRCM), University of Montpellier (UM), Montpellier, France.
Jazyk: angličtina
Zdroj: Frontiers in oncology [Front Oncol] 2022 Dec 15; Vol. 12, pp. 1089108. Date of Electronic Publication: 2022 Dec 15 (Print Publication: 2022).
DOI: 10.3389/fonc.2022.1089108
Abstrakt: The detection of circulating tumor DNA (ctDNA) by liquid biopsy is taking an increasing role in thoracic oncology management due to its predictive and prognostic value. For non-small cell lung cancer, it allows the detection of molecular mutations that can be targeted with tyrosine kinase inhibitors (TKIs). We report the case of a patient with life-threatening hepatocellular failure and thrombotic microangiopathy at the diagnosis. A salvage chemotherapy was attempted, resulting in a major worsening of her general condition and the decision to stop all anti-cancer treatment. The liquid biopsy performed at the time of immunohistochemical non-small cell lung cancer diagnosis revealed within 7 days the presence of an epidermal growth factor receptor ( EGFR) DEL19 activating mutation with 736,400 DNA copies/ml of plasma. It was finally decided to attempt a treatment with osimertinib (third generation anti-EGFR TKI) despite the fact that the patient was in a pre-mortem situation. Osimertinib led to a significant and prompt improvement of her performance status after only one week of treatment. The tumor tissue genotyping performed by next-generation sequencing (NGS) was available 10 days after starting TKI treatment. It revealed in addition to the EGFR DEL19 mutation, a JAK3 and EGFR amplification, highlighting the complex interactions between EGFR and the JAK/STAT signaling pathways. The first CT-scan performed after 2 months under osimertinib showed a tumor morphologic partial response. The biological assay showed a major decrease in the EGFR DEL19 mutation ctDNA levels (40.0 copies/ml). The liquid biopsy allowed an early implementation of a targeted therapy without which the patient would probably be dead. Testing for ctDNA should be discussed routinely at diagnosis in addition to tumor tissue genotyping for patient with metastatic non-small cell lung cancer that raise the clinical profile of oncogenic addiction.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2022 Thomas, Colard-Thomas, Delansay, Leenhardt, Solassol, Vendrell and Quantin.)
Databáze: MEDLINE