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MINI: We identified differentially expressed genes (DEGs) that may be involved in the development of neurofibromatosis type I by whole-transcriptional sequencing. Seven hundred eighty DEGs were identified which include protein coding genes, miRNAs, and lncRNAs. The enrichment analysis may reveal pathways that these DEGs involved. A total of 383 protein-pairs for DEGs may unfold the possible mechanism how the disease is developed.This is a clinical basic study on neurofibromatosis type I (NF-1) with spinal deformity.The current research focuses on screening key molecules affecting NF-1 with spinal deformity by transcriptome sequencing and discovering its underlying molecular biological mechanisms.NF-1 is a complex multisystem human disorder, which is often found in spinal deformities patients. The success rate of orthopedic surgery for neurofibromatosis type I combined with spinal deformities patients was low because of the lack of molecular pathology.In our study, the transcriptome-wide sequencing was preformed to identify the differentially expressed genes (DEGs) involved in this disease.Seven hundred eighty DEGs were identified which include protein coding genes, miRNAs, and lncRNAs. The DO, GO, KEGG and Reactome enrichment analysis may reveal pathways that these DEGs involved. And the 383 protein-pairs for DEGs that are involved in NF-1 combined with spinal deformities may unfold the possible mechanism how this disease is developed.The differentially expressed miRNAs and lncRNAs may contribute the ceRNA network. We focused on three key DEGs: FGFR2, MAP3K1 and STAT4. FGFR2 and MAP3K1 are members of the RAS/RAF/MEK/ERK-signaling pathway, and STAT4 were involved in the JAK/STAT pathway. The expression changes were verified by other researches and the functional cross-talk between the Ras/MAPK and JAK/STAT pathways may contribute in the disease development. This study took insight of the molecular mechanism of this disease. More detailed interactions between these factors are needed to be further explored. These key DEGs and involved pathways may provide clues in the clinical process for patients with NF-1, especially in prognosis prediction.N/A.This is a clinical basic study on neurofibromatosis type I (NF-1) with spinal deformity. The current research focuses on screening key molecules affecting NF-1 with spinal deformity by transcriptome sequencing and discovering its underlying molecular biological mechanisms. NF-1 is a complex multisystem human disorder, which is often found in spinal deformities patients. The success rate of orthopedic surgery for neurofibromatosis type I combined with spinal deformities patients was low because of the lack of molecular pathology. In our study, the transcriptome-wide sequencing was preformed to identify the differentially expressed genes (DEGs) involved in this disease. Seven hundred eighty DEGs were identified which include protein coding genes, miRNAs, and lncRNAs. The DO, GO, KEGG and Reactome enrichment analysis may reveal pathways that these DEGs involved. And the 383 protein-pairs for DEGs that are involved in NF-1 combined with spinal deformities may unfold the possible mechanism how this disease is developed. The differentially expressed miRNAs and lncRNAs may contribute the ceRNA network. We focused on three key DEGs: FGFR2, MAP3K1 and STAT4. FGFR2 and MAP3K1 are members of the RAS/RAF/MEK/ERK-signaling pathway, and STAT4 were involved in the JAK/STAT pathway. The expression changes were verified by other researches and the functional cross-talk between the Ras/MAPK and JAK/STAT pathways may contribute in the disease development. This study took insight of the molecular mechanism of this disease. More detailed interactions between these factors are needed to be further explored. These key DEGs and involved pathways may provide clues in the clinical process for patients with NF-1, especially in prognosis prediction. Level of Evidence: N/A.

Background Though considerable efforts have been made to improve the treatment of epithelial ovarian cancer (EOC), the prognosis of patients has remained poor. Identifying differentially expressed genes (DEGs) involved in EOC progression and exploiting them as novel biomarkers or therapeutic targets is of great value. Methods Overlapping DEGs were screened out from three independent gene expression omnibus (GEO) datasets and were subjected to Gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analyses. The protein-protein interactions (PPI) network of DEGs was constructed based on the STRING database. The expression of hub genes was validated in GEPIA and GEO. The relationship of hub genes expression with tumor stage and overall survival and progression-free survival of EOC patients was investigated using the cancer genome atlas data. Results A total of 306 DEGs were identified, including 265 up-regulated and 41 down-regulated. Through PPI network analysis, the top 20 genes were screened out, among which 4 hub genes, which were not researched in depth so far, were selected after literature retrieval, including CDC45, CDCA5, KIF4A, ESPL1. The four genes were up-regulated in EOC tissues compared with normal tissues, but their expression decreased gradually with the continuous progression of EOC. Survival curves illustrated that patients with a lower level of CDCA5 and ESPL1 had better overall survival and progression-free survival statistically. Conclusion Two hub genes, CDCA5 and ESPL1, identified as probably playing tumor-promotive roles, have great potential to be utilized as novel therapeutic targets for EOC treatment.