BackgroundInfantile hemangioma (IH) is characterized by proliferation and regression.MethodsBased on the GSE127487 dataset, the differentially expressed genes (DEGs) between 6, 12, or 24 months and normal samples were screened, respectively. STEM software was used to screen the continued up-regulated or down-regulated in common genes. The modules were assessed by weighted gene co-expression network analysis (WGCNA). The enrichment analysis was performed to identified the biological function of important module genes. The area under curve (AUC) value and protein-protein interaction (PPI) network were used to identify hub genes. The differential expression of hub genes in IH and normal tissues was detected by qPCR.ResultsThere were 5,785, 4,712, and 2,149 DEGs between 6, 12, and 24 months and normal tissues. We found 1,218 DEGs were up-regulated or down-regulated expression simultaneously in common genes. They were identified as 10 co-expression modules. Module 3 and module 4 were positively or negatively correlated with the development of IH, respectively. These two module genes were significantly involved in immunity, cell cycle arrest and mTOR signaling pathway. The two module genes with AUC greater than 0.8 at different stages of IH were put into PPI network, and five genes with the highest degree were identified as hub genes. The differential expression of these genes was also verified by qRTPCR.ConclusionFive hub genes may distinguish for proliferative and regressive IH lesions. The WGCNA and PPI network analyses may help to clarify the molecular mechanism of IH at different stages.

The hERCC2 gene is an important DNA repair molecule for initiating Cutaneous melanoma (CM). Therefore, it is advisable to study the possible functional SNVs in hERCC2. To achieve this goal, we collected total 2, 253 SNVs in hERCC2from the EMBL website, of which 303 are non-synonymous single nucleotide variants (nsSNVs). Then, SIFT and PolyPhen were used to predict the damaging nsSNVs, and four nsSNVs (rs368866996, rs377739017, rs370819591, and rs121913022) were suggested to be damaging mutations. Since I-Mutant2.0 showed a decrease in stability for the mutants containing each of the four nsSNVs, a 3D protein structure was modeled. Based on the comparison of the energy after minimization, RMSD and stabilizing residues between the native and mutant proteins' structure, rs121913022 was proposed to be the most damaging variant among the nsSNVs in hERCC2 gene by decreasing the stability of protein. The mutant G713R of hERCC2 protein caused by rs121913022 was found to have less expression level than native hERCC2 protein in melanoma cells. These results suggest that rs121913022 may have potentially important clinical and drug target implications.

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Background: This study aimed to introduce our single-center experience of infant vascular tumor associated with Kasabach-Merritt phenomenon (KMP) which received combined medicine treatment with intralesional laser photocoagulation (ILP) and sclerotherapy. Methods: A retrospective study was conducted of medical records of all children with diagnosis of KHE or TA associated with KMP treated with medicine treatment, intralesional laser photocoagulation (ILP) and sclerotherapy between February 2017 to November 2020. Clinical features, response to comprehensive therapy and outcomes were recorded. Results. Twenty-three patients, including nine females (39%) and fourteen males (61%), were identified. The mean age was 6.9 months (age range, 11 days to 2 years) at the time of treatment. Nine children (39%) demonstrated sensitivity to single corticosteroid therapy. Fourteen children (61%) received combining therapy with intravenous VCR and corticosteroid therapy. All children had at least two ILP and sclerotherapy performed, with a mean of 3.5 procedures (range: 2-6). Of these 14 children, only one experienced a relapse of thrombocytopenia and the remaining 13 children had no clinical symptoms recurred but non-involuting tumor. Conclusions. The combined therapy modalities could induce a more rapid tumor response and resolution of KMP, decrease the rebound rates. The precent research presents a noval and safe multi-modality treatment for infant vascular tumor associated with KMP.