Cited by 3Lung Cancer Treatments and MutationsBrain Metastases and TreatmentCancer Genomics and Diagnostics

Effective Treatment With Afatinib of Lung Adenocarcinoma With Leptomeningeal Metastasis Harboring the Exon 18 p.G719A Mutation in the EGFR Gene Was Detected in Cerebrospinal Fluid: A Case Report

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Ma, Chunhua, Wang, Shuyuan, Mu, Ning, Li, Jinduo, Liu, Mei, Li, Lin, Jiang, Rong·2020·Frontiers in Oncology

Abstract

Background: In patients with lung adenocarcinoma and leptomeningeal metastases, it remains unknown whether non-classical mutations in the epidermal growth factor receptor (EGFR) gene can be detected in the cerebrospinal fluid (CSF) and how it may be used to design directed therapy. Methods: On April 18, 2018, the Interventional Department of Tianjin Huanhu Hospital admitted a 34-year-old male patient with lung adenocarcinoma and leptomeningeal metastasis. An emergency lateral ventriculoperitoneal shunt was performed to relieve the clinical symptoms of intracranial hypertension. Next-generation sequencing (NGS) of the CFS specimens revealed a mutation in EGFR exon 18 p.G719A, and afatinib was administered. Follow-up showed significantly relieved headache, with significantly reduced soft leptomeningeal abnormal enhancement as revealed by enhanced magnetic resonance imaging and significantly smaller tumors in the left lung by chest computed tomography. Carcinoembryonic antigens (CEA) in cerebrospinal fluid and peripheral blood were significantly reduced. The patient responded well to afatinib, with mild adverse complications. The patient died on October 27, 2019, from respiratory failure as a result of lung infection unrelated to cancer progression. The overall survival (OS) using afatinib was 530 days. Conclusion: CSF can be used as a liquid biopsy for NGS gene detection in patients with lung adenocarcinoma and leptomeningeal metastases. Afatinib exhibits a beneficial effect in patients with lung adenocarcinoma and leptomeningeal metastases harboring the EGFR exon 18 p.G719A mutation.

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Crossref · 10.3389/fonc.2020.01635

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  • Structure-function-based grouping identified a larger subgroup of EGFR mutations, PACC mutants, for which second-generation TKIs were more selective than third-generation TKIs.

    “While previous studies have shown activity of second-generation TKIs in patients with specific exon 18 mutations33,34, structure–function-based grouping identified a larger subgroup of EGFR mutations, PACC mutants, for which second-generation TKIs were more selective than third-generation TKIs.”

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  1. [11]Wang Y Li M Hu CP Rare mutation and targeted therapy of EGFR gene in non-small cell lung cancer. Natl Med J China. (2019) 99: 154– 7. 10.3760/cma.j.issn.0376-2491.2019.02.016 · DOI

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Authors
Ma, C., Wang, S., Mu, N., Li, J., Liu, M., Li, L., & Jiang, R.
Affiliations
Tianjin Huanhu Hospital (CN)
Corresponding author
Jiang, Rong
Venue
Frontiers in Oncology
Published
2020-09-08
Volume
10
Pages
1635-1635
ISSN
2234-943X (ISSN-L)
OpenAlex
W3084380209
Cited by
3
References
24
Citations by year
2024: 1 · 2021: 2
FWCI
0.28
Type
journal article
Language
en
Open access
Locations
  • Frontiers in Oncology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Brain Metastases and Treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
lung adenocarcinoma, leptomeningeal metastasis, afatinib, cerebrospinal fluid, liquid biopsy, intracranial hypertension, ventriculoperitoneal shunt, carcinoembryonic antigen, targeted therapy

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