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Brain & Heart

ORIGINAL RESEARCH ARTICLE
Distinctive clinicopathological features and

differential gene expression of cerebral venous
thrombosis mimicking brain tumors

1,2
Longxiao Zhang 1,2† , Shixiong Lei 1,2† , Yan Hu 1,2† , Shengqi Zhao ,
1,2
1,2
1,2
Mingchu Zhang , Chengcheng Duan , Mingkun Wei , and Fuyou Guo *
1,2
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

Abstract

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
† These authors contributed equally who were misdiagnosed with brain tumors before surgery at our hospital from
to this work.
2016 to 2021. We analyzed the clinicopathological characteristics of the cases from
*Corresponding author: our hospital and previously published cases. Five subjects were retrospectively
Fuyou Guo
(chyou666@hotmail.com) studied, but one refused to provide biological specimens. We performed messenger
ribonucleic acid (mRNA) sequencing from eight specimens (four CVTMBT and four
Citation: Zhang L, Lei S,
Hu Y, et al., 2023, Distinctive non-CVTMBT samples). Differentially expressed genes (DEGs) were screened using
clinicopathological features and the “edge” package in R 3.6.1 software. Thrombophilia-related genes were obtained
differential gene expression of from the MalaCards human disease database and were cross-checked with DEGs.
cerebral venous thrombosis The intersection was considered to be the potential genes in the pathogenesis
mimicking brain tumors. Brain &
Heart, 1(1): 188. of CVTMBT. The medical histories of the five patients with CVTMBT included
https://doi.org/10.36922/bh.v1i1.188 oral non-steroidal anti-inflammatory drug use, oral contraceptive use, cesarean
Received: September 6, 2022 section, and anemia. All patients underwent craniotomy and were pathologically
diagnosed with CVT. The follow-up results revealed that all patients had favorable
Accepted: December 23, 2022
outcomes without any recurrence. DEG analysis revealed 813 upregulated and 253
Published Online: January 27, downregulated DEGs between patients with CVTMBT and controls. Nine DEGs were
2023 associated with thrombophilia, including SERPINE1, SELP, THBD, ITGB3, TFPI, F13A1,
Copyright: © 2023 Author(s). PROS1, PPBP, and PROCR, which were considered potential key genes in CVTMBT.
This is an Open Access article CVTMBT presents with enhancement and mass effect on magnetic resonance
distributed under the terms of the
Creative Commons Attribution imaging, accompanied by various predisposing factors, shorter disease duration,
License, permitting distribution, and coagulation dysfunction. The nine key genes identified as potential key genes
and reproduction in any medium, in the pathogenesis of CVTMBT may be potential biomarkers for accurate screening
provided the original work is
properly cited. and appropriate treatment.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: Cerebral venous thrombosis; Brain tumor; Gene expression; Mimicking;
regard to jurisdictional claims in
published maps and institutional mRNA sequencing
affiliations.

Volume 1 Issue 1 (2023) 1 https://doi.org/10.36922/bh.v1i1.188