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Morphological, genetic and clinical correlations in infantile hemangiomas and their mimics.

ABSTRACT: Infantile hemangiomas (IHs) are the most frequent pediatric benign vascular tumors, with a reported incidence of 5% to 10%. They have self-limiting evolution pattern divided into a growth phase in the first 12 months and a regression one, that may take up to 10 years. Occasionally, hemangiomas might lead to local or systemic complications, depending on their morphological characteristics. The first line of treatment is β-blockers, such as Propranolol, Timolol, Nadolol, administered either locally or systemically. Newer therapeutic strategies involving laser therapy and angiotensin-converting enzyme inhibitors are being studied, while older treatment modalities like corticosteroids, Imiquimod, Vincristine, Bleomycin and Interferon-α have become second line therapy options. Before establishing the appropriate treatment, clinical, histological, and imaging investigations are required.

SUBMITTER: Luca AC

PROVIDER: S-EPMC8112746 | biostudies-literature | 2020 Jul-Sep

REPOSITORIES: biostudies-literature

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Morphological, genetic and clinical correlations in infantile hemangiomas and their mimics.

Luca Alina Costina AC Miron Ingrith Crenguţa IC Trandafir Laura Mihaela LM Cojocaru Elena E Pădureţ Ioana Alexandra IA Trandafirescu Mioara Florentina MF Iordache Alin Constantin AC Ţarcă Elena E

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 20200701 3

Infantile hemangiomas (IHs) are the most frequent pediatric benign vascular tumors, with a reported incidence of 5% to 10%. They have self-limiting evolution pattern divided into a growth phase in the first 12 months and a regression one, that may take up to 10 years. Occasionally, hemangiomas might lead to local or systemic complications, depending on their morphological characteristics. The first line of treatment is β-blockers, such as Propranolol, Timolol, Nadolol, administered either locall ...[more]

PMID: 33817710

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Project description:BackgroundInfantile Hemangiomas (IHs) are common benign vascular tumors of infancy that may have serious consequences. The research on diagnostic markers for IHs is scarce.MethodsThe "limma" R package was applied to identify differentially expressed genes (DEGs) in developing IHs. Plugin ClueGO in Cytoscape software performed functional enrichment of DEGs. The Search Tool for Retrieving Interacting Genes (STRING) database was utilized to construct the PPI network. The least absolute shrinkage and selection operator (LASSO) regression model and support vector machine recursive feature elimination (SVM-RFE) analysis were used to identify diagnostic genes for IHs. The receiver operating characteristic (ROC) curve evaluated diagnostic genes' discriminatory ability. Single-gene based on Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) was conducted by Gene Set Enrichment Analysis (GSEA). The chemicals related to the diagnostic genes were excavated by the Comparative Toxicogenomics Database (CTD). Finally, the online website Network Analyst was used to predict the transcription factors targeting the diagnostic genes.ResultsA total of 205 DEGs were singled out from IHs samples of 6-, 12-, and 24-month-old infants. These genes principally participated in vasculogenesis and development-related, endothelial cell-related biological processes. Then we mined 127 interacting proteins and created a network with 127 nodes and 251 edges. Furthermore, LASSO and SVM-RRF algorithms identified five diagnostic genes, namely, TMEM2, GUCY1A2, ISL1, WARS, and STEAP4. ROC curve analysis results indicated that the diagnostic genes had a powerful ability to distinguish IHs samples from normal samples. Next, the results of GSEA for a single gene illustrated that all five diagnostic genes inhibited the "valine, leucine, and isoleucine degradation" pathway in the development of IHs. WARS, TMEM2, and STEAP4 activated the "blood vessel development" and "vasculature development" in IHs. Subsequently, inhibitors targeting TMEM2, GUCY1A2, ISL1, and STEAP4 were mined. Finally, 14 transcription factors regulating GUCY1A2, 14 transcription factors regulating STEAP4, and 26 transcription factors regulating ISL1 were predicted.ConclusionThis study identified five diagnostic markers for IHs and further explored the mechanisms and targeting drugs, providing a basis for diagnosing and treating IHs.

Dataset Information

Morphological, genetic and clinical correlations in infantile hemangiomas and their mimics.

Publications

Morphological, genetic and clinical correlations in infantile hemangiomas and their mimics.

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