Chẩn đoán đột biến gen EGFR trong ung thư phổi không tế bào nhỏ với các mẫu bệnh phẩm dịch khoang cơ thể

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Abstract

Introduction: Based on the nature of the body cavity fluid samples, there is the presence of suspended DNA
fragments that help to make an EGFR mutation diagnosis. From this principle, we have conducted this research
with the following objectives: Investigate the positive rate of EGFR mutations in body cavity fluid samples, and
explore the diagnosis rate of EGFR gene mutations in paraffin block histology samples with body cavity fluid
samples in the same patients.
Methods: In a retrospective study, cases of NSCLC were diagnosed with EGFR mutations by paraffin block
histological specimens with Test EGFR Version 1 and body cavity fluid samples (pleural fluid, pericardial fluid,
peritoneal fluid, cerebrospinal fluid) with Test EGFR Version 2.
Results: There are 117 cases in the research: Results of EGFR mutation diagnosis on paraffin block
histology: (+) 49 cases # 41.88%, equivalent to statistics in Vietnam and the World (Asia). The majority are still
two types of drug - sensitive mutants TKIs: Exon 19 Deletion and Exon 21 L858R (53% and 23%). Results of
diagnosis of EGFR mutation in samples of body cavity fluids: Most samples of body cavity performing diagnosis of
EGFR mutation were pleural fluid (91 cases # 77.77%). The highest rate of detection of mutations in pleural and
cerebrospinal fluid samples (29.67% & 83.33%). Comparing the rate of detection of EGFR mutation in body fluid
samples (35/117 cases # 29.91%) with the statistically lower rate of detection in histological samples (29.91% ↔
41, 88% with P = 0.0125). Compared with other studies in the world, most studies have higher results than those
at Pham Ngoc Thach Hospital.
Conclusion: Survey on the diagnosis of EGFR mutations in body cavity fluid samples, especially in fluid
samples with too few malignant cells, showed positive results of 29.91%. The highest percentage is in pleural
fluid and cerebrospinal fluid. However, the ability to detect EGFR mutations in body cavity fluid samples was lower
than in histological specimens (29.91% < 41.88%). And the similarity between these two samples is 71.42%.
Therefore, it is necessary to improve the technique of performing EGFR mutation diagnosis in body cavity fluid
samples with more sensitive methods: ddPCR, NGS...

https://doi.org/10.38103/jcmhch.2021.74.12

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Published 28-11-2021
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Language
Issue No. 74 (2021)
Section Original article
DOI 10.38103/jcmhch.2021.74.12
Keywords Đột biến EGFR, dịch các khoang cơ thể, ung thư phổi, không tế bào nhỏ. Non small cell lung cancer (NSCLC), Formalin - Fixed Paraffin - Embedded Tissue (FFPET), Body cavity fluids, Cell Free DNA, Cellular DNA.

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Copyright (c) 2021 Journal of Clinical Medicine Hue Central Hospital

Lam, N. S. (2021). Chẩn đoán đột biến gen EGFR trong ung thư phổi không tế bào nhỏ với các mẫu bệnh phẩm dịch khoang cơ thể. Journal of Clinical Medicine Hue Central Hospital, (74), 78–85. https://doi.org/10.38103/jcmhch.2021.74.12