Cerebral venous thrombosis (CVT), a rare type of cerebrovascular disease, can mimic a brain tumor (CVT mimicking brain tumor [CVTMBT]), due to its space-occupying imaging features. We aimed to describe the clinicopathological features and identify the thrombophilia-related gene expression changes in the brain following CVT. We conducted a retrospective qualitative study of CVT patients who were misdiagnosed with brain tumors before surgery at our hospital from 2016 to 2021. We analyzed the clinicopathological characteristics of the cases from our hospital and previously published cases. Five subjects were retrospectively studied, but one refused to provide biological specimens. We performed messenger ribonucleic acid (mRNA) sequencing from eight specimens (four CVTMBT and four non-CVTMBT samples). Differentially expressed genes (DEGs) were screened using the “edge” package in R 3.6.1 software. Thrombophilia-related genes were obtained from the MalaCards human disease database and were cross-checked with DEGs. The intersection was considered to be the potential genes in the pathogenesis of CVTMBT. The medical histories of the five patients with CVTMBT included oral non-steroidal anti-inflammatory drug use, oral contraceptive use, cesarean section, and anemia. All patients underwent craniotomy and were pathologically diagnosed with CVT. The follow-up results revealed that all patients had favorable outcomes without any recurrence. DEG analysis revealed 813 upregulated and 253 downregulated DEGs between patients with CVTMBT and controls. Nine DEGs were associated with thrombophilia, including SERPINE1, SELP, THBD, ITGB3, TFPI, F13A1, PROS1, PPBP, and PROCR, which were considered potential key genes in CVTMBT. CVTMBT presents with enhancement and mass effect on magnetic resonance imaging, accompanied by various predisposing factors, shorter disease duration, and coagulation dysfunction. The nine key genes identified as potential key genes in the pathogenesis of CVTMBT may be potential biomarkers for accurate screening and appropriate treatment.
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