[HTML][HTML] Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for …
R Mehrian-Shai, M Yalon, I Moshe, I Barshack, D Nass… - BMC genomics, 2016 - Springer
BMC genomics, 2016•Springer
Background The 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. Results We 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 …
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. Results We 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 …
Background
The 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.
Results
We 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.
Conclusions
Our 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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