Abstract
IntroductionIntravenous leiomyomatosis (IVL) is currently regarded as a special variant of the common uterine leiomyoma (LM). Though IVL shows a similar histological morphology to LM, IVL is characterized by unique intravenous growth patterns and low‐grade malignant potential, which are quite different from LM. There are currently few studies underlying the molecular alterations of IVL, though this information is important for understanding the pathogenesis of the disease, and for identifying potential biomarkers.MethodWe carried out a high‐throughput whole transcriptome sequencing of tumor and normal tissue samples from five IVL patients and five LM patients and compared the differentially expressed genes (DEGs) between IVL and leiomyoma. We performed multiple different enrichment and target analyses, and the expression of selected DEGs was validated using RT‐qPCR in formalin‐fixed samples.ResultsOur study identified substantial different genes and pathways between IVL and LM, and functional enrichment analyses found several important pathways, such as angiogenesis and antiapoptosis pathways, as well as important related genes, including SH2D2A, VASH2, ADAM8, GATA2, TNF, and the lncRNA GATA6‐AS1, as being significantly different between IVL and LM (P = .0024, P = .0195, P = .0212, P = .0435, P = .0401, and P = .0246, respectively). CXCL8, LIF, CDKN2A, BCL2A1, COL2A1, IGF1, and HMGA2 were also differently expressed between IVL and LM groups, but showed no statistical difference (P = .2409, P = .1773, P = .0596, P = .2737, P = .1553, P = .1045, and P = .1847, respectively) due to the large differences among individuals. Furthermore, RT‐qPCR results for five selected DEGs in IVL tissues and adjacent nontumor tissues were mainly consistent with our sequencing results.ConclusionOur results indicated that IVL may be a solid entity that is unique and different from LM, proving consistent with previous studies. Furthermore, we identified DEGs, particularly within angiogenesis and antiapoptosis pathway‐related genes that may play crucial roles in the development and pathogenesis of IVL and may be potential specific biomarkers.
Highlights
Intravenous leiomyomatosis (IVL) is currently regarded as a special variant of the common uterine leiomyoma (LM)
We focused on angiogenesis and antiapoptosis pathways, which were two important pathways in tumor development and may be involved in the different features between IVL and LM
differentially expressed genes (DEGs) and DE lncRNAs enriched in angiogenesis and antiapoptosis KEGG pathways, as well as Disease Ontology (DO), Gene Ontology (GO), and Reactome terms involved in these pathways, were collected and analyzed in the gene expression data
Summary
Intravenous leiomyomatosis (IVL) usually presents as a histologically benign smooth muscle cell tumor, growing from the uterus and invading into the extrauterine venous system, and is found to mainly occur in reproductive-age women.[1]. IVL has a unique and meandering pattern of growth within the blood vessels.[1] As previous studies have suggested, the tumor surface is covered with a complete layer of vascular endothelial cells, and the microvascular density of the tumor is higher than that of LM or normal uterine smooth muscle tissue.[3,4] IVL can even form a spongy network of vessels internally. This special growth pattern suggests that IVL has a strong induction of vascular endothelial cell proliferation and neovascularization. IVL is quite different from LM in clinical and pathological features, little research has been conducted to explore the solid differences between both tumors.[9,10,11] The
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