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BMC Genomics. 2016 Jan 14;17:56. doi: 10.1186/s12864-016-2370-6.

Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis.

Author information

1
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. ruty.shai@sheba.health.gov.il.
2
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. michal@droren.co.il.
3
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. itaimoshe@gmail.com.
4
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Iris.Barshack@sheba.health.gov.il.
5
Institute of Pathology, Sheba Medical Center, Tel Hashomer, Israel. Iris.Barshack@sheba.health.gov.il.
6
Institute of Pathology, Sheba Medical Center, Tel Hashomer, Israel. Dvora.Nass@sheba.health.gov.il.
7
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Jasmine.Jacob@sheba.health.gov.il.
8
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Chen.Gefen@sheba.health.gov.il.
9
Division of Tropical Health and Medicine, James Cook University, Townsville, QLD, Australia. Juergen.reichardt@jcu.edu.au.
10
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. sconsts@netvision.net.il.
11
Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel-Aviv-Sourasky Medical Center, Tel-Aviv, Israel. sconsts@netvision.net.il.
12
Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel. amost@post.tau.ac.il.
13
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. amost@post.tau.ac.il.

Abstract

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.

PMID:
26768750
PMCID:
PMC4712606
DOI:
10.1186/s12864-016-2370-6
[Indexed for MEDLINE]
Free PMC Article

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