AccScience Publishing / BH / Volume 1 / Issue 1 / DOI: 10.36922/bh.v1i1.188
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Distinctive clinicopathological features and differential gene expression of cerebral venous thrombosis mimicking brain tumors

Longxiao Zhang1,2† Shixiong Lei1,2† Yan Hu1,2† Shengqi Zhao1,2 Mingchu Zhang1,2 Chengcheng Duan1,2 Mingkun Wei1,2 Fuyou Guo1,2*
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1 Department of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, 450052, PR China
2 International Joint Laboratory of Nervous System Malformations, Henan Province, 450052, PR China
Brain & Heart 2023, 1(1), 188
Submitted: 6 September 2022 | Accepted: 23 December 2022 | Published: 27 January 2023
© 2023 by the Author(s). Licensee AccScience Publishing, Singapore. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( )

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.

Cerebral venous thrombosis
Brain tumor
Gene expression
mRNA sequencing
National Key Research and Development Program of China
Provincial and ministerial co-construction project of Henan Medical Science and Technology Research Plan

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Conflict of interest
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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Brain & Heart, Electronic ISSN: 2972-4139 Print ISSN: TBA, Published by AccScience Publishing