Abstract

The purpose of this study was to explore the potential relationship between intravenous leiomyomatosis (IVL) and uterine myoma (UM) at the molecular level. RNA-sequencing was performed on IVL tumours, UM tumours, and adjacent normal uterine muscle. We compared the gene expression levels between IVL and normal uterine muscle, UM and normal uterine muscle, to identify differentially expressed genes (DEGs). Then we used Gene Ontology Enrichment Analysis to determine the functions of the DEGs and performed specimen cluster analysis. We obtained 98 DEGs between IVL and adjacent normal uterine muscle, and 61 DEGs between UM and adjacent normal uterine muscle. Functional enrichment of both IVL and UM DEGs showed that they are associated with hormone stimulus, extracellular matrix, and cell adhesion. Unsupervised clustering analysis showed that IVL and UM could not be separated completely. Among these dysregulated genes, we found that HOXA13 showed a distinct dysregulated status between IVL and UM. HOXA13 may therefore serves as a biomarker to distinguish IVL and UM. Our results showed that IVL and UM may have similar dysregulated gene networks. They may be closely related, and HOXA13 may serves as a biomarker to distinguish between IVL and UM.

Highlights

  • We conducted multi-position sampling for each tumour and conducted RNA sequencing for each sample

  • The results demonstrated that all nine cases of IVL had a wild-type MED12 gene at codon 44, suggesting that IVL is a distinct smooth muscle tumour with a unique pathogenesis different from that of conventional leiomyomas. (The latter are associated with MED12 mutation.) Sekine et al used Sanger sequencing to determine the prevalence of MED12 mutations in smooth muscle tumour of different organs

  • We concluded from this study that IVL is closely related to uterine myoma

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Summary

Objectives

The purpose of this study was to explore the potential relationship between intravenous leiomyomatosis (IVL) and uterine myoma (UM) at the molecular level

Methods
Results
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Conclusion
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