Published online Aug 6, 2022. doi: 10.12998/wjcc.v10.i22.7968
Peer-review started: February 11, 2022
First decision: May 30, 2022
Revised: June 2, 2022
Accepted: June 21, 2022
Article in press: June 21, 2022
Published online: August 6, 2022
Processing time: 161 Days and 5.3 Hours
Patients diagnosed with non-small-cell lung cancer with activated epidermal growth factor receptor mutations are more likely to develop leptomeningeal (LM) metastasis than other types of lung cancers and have a poor prognosis. Early diagnosis and effective treatment of leptomeningeal carcinoma can improve the prognosis.
A 55-year-old female with a progressive headache and vomiting for one month was admitted to Peking University First Hospital. She was diagnosed with lung adenocarcinoma with osseous metastasis 10 months prior to admittance. epidermal growth factor receptor (EGFR) mutation was detected by genomic examination, so she was first treated with gefitinib for 10 months before acquiring resistance. Cell-free cerebrospinal fluid (CSF) circulating tumor DNA detection by next-generation sequencing was conducted and indicated the EGFR-Thr790Met mutation, while biopsy and cytology from the patient’s CSF and the first enhan
This report suggests clinical benefit of osimertinib in LM patients with positive detection of the EGFR-Thr790Met mutation in CSF and proposes that the positive findings of CSF circulating tumor DNA as a liquid biopsy technology based on the detection of cancer-associated gene mutations may appear earlier than the imaging and CSF findings and may thus be helpful for therapy. Moreover, the routine screening of chest CT with the novel coronavirus may provide unexpected benefits.
Core Tip: Examination of circulating tumor DNA in cell-free cell-free cerebrospinal fluid (CSF) has been shown to be useful for detecting the genomic mutations of tumors in the central nervous system, and osimertinib is considered to be a recent standardized treatment for epidermal growth factor receptor (EGFR) Thr790Met-mutant non-small-cell lung cancer (NSCLC). Hence, we report a patient with EGFR Thr790Met-mutant NSCLC with meningeal carcinomatosis and resistance to gefitinib and propose that the positive findings of CSF circulating tumor DNA as a liquid biopsy technology based on the detection of cancer-associated gene mutations that may appear earlier than the imaging and CSF findings and thus be helpful for therapy.