Added by | pcoopman |
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Group name | EquipePC |
Item Type | Journal Article |
Title | Case report: Liquid biopsy, the sooner the better? |
Creator | Thomas et al. |
Author | Quentin Dominique Thomas |
Author | Julien Colard-Thomas |
Author | Delphine Delansay |
Author | Fanny Leenhardt |
Author | Julie A. Vendrell |
Author | Xavier Quantin |
Abstract | 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. |
Publication | Frontiers in Oncology |
Volume | 12 |
Pages | 1089108 |
Date | 2022 |
Journal Abbr | Front Oncol |
Language | eng |
DOI | 10.3389/fonc.2022.1089108 |
ISSN | 2234-943X |
Short Title | Case report |
Library Catalog | PubMed |
Extra | PMID: 36591516 PMCID: PMC9797958 |
Tags | clinic, ctDNA = circulating tumor DNA, EGFR, liquid biopsy, lung cancer, thrombotic microangiopathy (TMA) |
Date Added | 2023/11/20 - 17:08:06 |
Date Modified | 2023/11/20 - 17:12:43 |
Notes and Attachments | PubMed entry (Attachment) Texte intégral (Attachment) |