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Brain & Heart Cerebral venous thrombosis mimicking brain tumors

one tentorial meningioma, one meningioma in the base analysis was performed using the HISAT2 tool (select
of the anterior cranial fossa, one intracranial lymphoma, default parameters), StringTie (select default parameters),
and one glioblastoma, at our hospital; these patients were and the process-recommended downstream differential
[22]
assigned as the control group. The selection criteria for the expression analysis method edgeR . The P-value, Q-value
control group included the following: Patients (1) without (the false positive rate [FDR] error control method was used
a history of stroke; (2) without liver, kidney, hematopoietic to correct P-value by multiple hypothesis testing, and the
system, and cardiovascular diseases or other serious corrected P-value was the Q-value), and FC (fold change)
primary diseases; and (3) without predisposing factors for were calculated for each gene. The genes met the differential
CVT, such as oral non-steroidal anti-inflammatory drug analysis criteria: Q-value ≤ 0.05 and FC ≥ 2 or FC ≤ 0.5 were
(NSAID) use or oral contraceptive use and pregnancy. taken as differentially expressed genes (DEGs).
Written and verbal informed consents for the use of the
specimens were obtained before surgery. 2.3. Screening of DEGs associated with
thrombophilia
All biopsy-confirmed patients from our hospital
received anticoagulation therapy based on the definitive Thrombophilia-associated genes were downloaded from
diagnosis of CVTMBT. Patients who presented with the MalaCards human disease database (https://www.
seizures initially received antiepileptic drugs to prevent malacards.org/) and were cross-checked with all confirmed
seizure recurrence. DEGs.

All procedures performed were approved by the Ethics 3. Results
Committee for Human Experiments of the Zhengzhou 3.1. Clinicopathological features and surgical findings
University (approval number: 2021-KY-0156-002).
Five patients (four females and one male; age, 13 – 48 years)
2.2. mRNA library construction and sequencing with distinct CVTMBT in different locations and with
RNA sequencing was performed by GeneFund unique clinicopathological features were included in
Biotechnology Co., Ltd. (Shanghai, China). The RNA the study. The short course of disease, which ranged
was extracted from tissues surrounding the infarcts in from 3 to 6 days, was one of the significant clinical
four subjects with CVTMBT and normal brain tissues characteristics, with symptoms of epileptic seizure (three
in four subjects with non-CVTMBT. mRNA extraction patients) and headache (three patients). Other significant
was performed using KAPA Stranded mRNA-Seq Kits symptoms included numbness in the right arm (one
according to the manufacturer’s instructions. The RNA patient) and altered consciousness (one patient). The
fragments with polyA tail were captured by oligo(dT) common risk factors included medication history of oral
beads. By heating, the captured mRNA fragments were NSAIDs or analgesics (two patients), Marvelon use for
interrupted to 200 – 300 base pairs (bp). Strand Synthesis hypermenorrhea (one patient), long-term anemia (one
Master Mix was added to the incubation and the mRNA was patient), and a medical history of cesarean section (one
reverse transcribed to complementary deoxyribonucleic patient). All patients had remarkable routine blood and
acid (cDNA). The DNA fragments were end-repaired, coagulation dysfunctions. The lesion was observed at a
an adenine (A) base was added to the 3’ end, and the specific location (two frontal lobe, one parietal lobe, one
sequencing adaptors were ligated. Real-time polymerase temporal lobe, and one temporal occipital lobe) linked
chain reaction was used to synthesize cDNA with a size of to a large cerebral vein on MRI. Intraoperative findings
300–400 bp. The library was sequenced using the Illumina revealed that three of the five lesions were involved in
HiSeq/NextSeq platform after qualifying. The connector remarkable occlusion of a large drainage vein and four
sequences were removed using the cutadapt program. of the five lesions presented with secondary hemorrhage
Clean data were retained and low-quality sequences were surrounding the vein. Histopathological findings revealed
eliminated using the Trimmomatic program . Clean abundant small vascular obstruction, inflammatory cell
[20]
data volume was calculated using FastQC software (http:// infiltration, and regional hemorrhage. The detailed data of
www.bioinformatics.babraham.ac.uk/projects/fastqc/) with the five patients with CVTMBT are shown in Table 1.
q20 and q30 proportions and was aligned to the reference Representative case: A 13-year-old female patient
genome using the HISAT program . Reads were spliced presented with headache and epileptic seizure. The initial
[20]
into transcripts using StringTie . Data volume was diagnosis was low-grade glioma, instead of vein infarction.
[21]
calculated and the data were compared. The results of the Considering that the lesion showed atypical features on
comparison were annotated and the known RNAs were both computed tomography and MRI, the patient was
selected for subsequent analysis. Differential expression misdiagnosed before surgery. T2 hyperintensity indicated

Volume 1 Issue 1 (2023) 3 https://doi.org/10.36922/bh.v1i1.188