The diagnostic significance of cerebrospinal fluid cytology and circulating tumor DNA in meningeal carcinomatosis

Frontiers in Neurology

Neurology

Shu-Jie Cheng¹  Wei-Ying Di²  Ya-Nan Chen³  Yun Cai³  Qiang Geng³  Chun-Hui Li⁴  Chuan Fang⁵  Yan-Hong Shang⁶  Yan-Li Tan⁷  Ya-Nan Wang⁷ 

[1]Clinical Medical College, Hebei University, Baoding, China

[2]Department of Hepatobiliary Surgery, Affiliated Hospital of Hebei University, Baoding, China

[3]Clinical Medical College, Hebei University, Baoding, China

[4]Department of Neurology, Affiliated Hospital of Hebei University, Baoding, China

[5]Department of Neurology, Affiliated Hospital of Hebei University, Baoding, China

[6]Department of Neurosurgery, Affiliated Hospital of Hebei University, Baoding, China

[7]Department of Neurosurgery, Affiliated Hospital of Hebei University, Baoding, China

[8]Hebei Key Laboratory of Precise Diagnosis and Treatment of Glioma, Baoding, China

[9]Department of Oncology, Affiliated Hospital of Hebei University, Baoding, China

[10]Department of Pathology, Affiliated Hospital of Hebei University, Baoding, China

关键词: meningeal carcinomatosis;    lung adenocarcinoma;    cerebrospinal fluid cytology examination;    CtDNA;    NGS;   

DOI  :  10.3389/fneur.2023.1076310

 received in 2022-11-10, accepted in 2023-02-08,  发布年份 2023

来源: Frontiers

【 摘 要 】

ObjectiveThe objective of this research is to investigate the clinical application value of cerebrospinal fluid (CSF) cytology and circulating tumor DNA (ctDNA) in lung adenocarcinoma (LUAD) meningeal metastasis-meningeal carcinomatosis (MC), and to further explore the possible molecular mechanisms and drug treatment targets of LUAD meningeal metastasis by next-generation sequencing (NGS).MethodsWe retrospectively analyzed LUAD with MC in 52 patients. CSF cytology was carried out using the slide centrifugation precipitation method and May-Grüwald-Giemsa (MGG) staining. Tumor tissue, plasma and CSF ctDNA of some MC patients were detected by NGS.ResultsOf the 52 MC patients, 46 (88.46%) were positive for CSF cytology and 34 (65.38%) were positive for imaging, with statistically significant differences in diagnostic positivity (P < 0.05). In 32 of these patients, CSF cytology, cerebrospinal fluid ctDNA, plasma ctDNA and MRI examination were performed simultaneously, and the positive rates were 84.38, 100, 56.25, and 62.50% respectively, the difference was statistically significant (P < 0.001). Analysis of the NGS profiles of tumor tissues, plasma and CSF of 12 MC patients: the mutated gene with the highest detection rate was epidermal growth factor receptor (EGFR) and the detection rate were 100, 58.33, and 100% respectively in tumor tissues, plasma and CSF, and there were 6 cases of concordance between plasma and tissue EGFR mutation sites, with a concordance rate of 50.00%, and 12 cases of concordance between CSF and tissue EGFR mutation sites, with a concordance rate of 100%. In addition, mutations not found in tissue or plasma were detected in CSF: FH mutation, SETD2 mutation, WT1 mutation, CDKN2A mutation, CDKN2B mutation, and multiple copy number variants (CNV), with the most detected being CDKN2A mutation and MET amplification.ConclusionCSF cytology is more sensitive than traditional imaging in the diagnosis of meningeal carcinomatosis and has significant advantages in the early screening and diagnosis of MC patients. CSF ctDNA can be used as a complementary diagnostic method to negative results of CSF cytology and MRI, and CSF ctDNA can be used as an important method for liquid biopsy of patients with MC, which has important clinical significance in revealing the possible molecular mechanisms and drug treatment targets of meningeal metastasis of LUAD.

【 授权许可】

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Copyright © 2023 Di, Chen, Cai, Geng, Tan, Li, Wang, Shang, Fang and Cheng.