ArticleBMC genomics2016
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis.
Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.Molecular oncology · 2026Article
- DNMT1 promotes the malignant progression of colorectal cancer by silencing HOXD11 via promoter hypermethylation.Discover oncology · 2026Article
- Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.PloS one · 2025Article
- Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.Cureus · 2023Article
- Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report withInternational medical case reports journal · 2023Article
- Intraparenchymal cerebellar capillary hemangioma in a 32-year-old man: a case report.Frontiers in surgery · 2023Article
- Abnormal expression ofPeerJ · 2021Article
- Identifying the spatial and temporal dynamics of molecularly-distinct glioblastoma sub-populations.Mathematical biosciences and engineering : MBE · 2020Article
- Multifaceted Role of PRDM Proteins in Human Cancer.International journal of molecular sciences · 2020Review
- Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.Molecular cytogenetics · 2020Article
- Rb1/Rbl1/Vhl loss induces mouse subretinal angiomatous proliferation and hemangioblastoma.JCI insight · 2019Article
- The incidence of consecutive manifestations in Von Hippel-Lindau disease.Familial cancer · 2019Article
- The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system.Scientific reports · 2019Article
- LncRNA SNHG16 drives proliferation, migration, and invasion of hemangioma endothelial cell through modulation of miR-520d-3p/STAT3 axis.Cancer medicine · 2018Article
- MicroRNA-152 inhibits ovarian cancer cell proliferation and migration and may infer improved outcomes in ovarian cancer through targeting FOXP1.Experimental and therapeutic medicine · 2018Article
- Mechanisms of Action of MicroRNAs in Infantile Hemangioma Tissue and Vascular Endothelial Cells in Different Periods.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
- From single-molecule detection to next-generation sequencing: microfluidic droplets for high-throughput nucleic acid analysis.Microfluidics and nanofluidics · 2017Article
- Management Strategies and Outcomes for VHL-related Craniospinal Hemangioblastomas.Journal of kidney cancer and VHL · 2017Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic mechanisms underlying hemangioblastoma development are still largely unknown. We used high-resolution single nucleotide polymorphism microarrays and droplet digital PCR analysis to detect copy number variations (CNVs) in total of 45 hemangioblastoma tumors.
resultsWe identified 94 CNVs with a median of 18 CNVs per sample. The most frequently gained regions were on chromosomes 1 (p36.32) and 7 (p11.2). These regions contain the EGFR and PRDM16 genes. Recurrent losses were located at chromosome 12 (q24.13), which includes the gene PTPN11.
conclusionsOur findings provide the first high-resolution genome-wide view of chromosomal changes in hemangioblastoma and identify 23 candidate genes: EGFR, PRDM16, PTPN11, HOXD11, HOXD13, FLT3, PTCH, FGFR1, FOXP1, GPC3, HOXC13, HOXC11, MKL1, CHEK2, IRF4, GPHN, IKZF1, RB1, HOXA9, and micro RNA, such as hsa-mir-196a-2 for hemangioblastoma pathogenesis. Furthermore, our data implicate that cell proliferation and angiogenesis promoting pathways may be involved in the molecular pathogenesis of hemangioblastoma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.