June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Mutation analysis of CDKN2A , MYB, MYBL1 and FGFR1 in pediatric low grade gliomas of the optic pathway
Author Affiliations & Notes
  • Shirel Weiss
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petach Tikva, Israel
  • Helen Toledano
    Department of Pdeiatric Oncology, Schneider Children’s Medical Center of Israel , , Israel, Petach Tikva, Israel
    Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petach Tikva, Israel
  • Orit Barinfeld
    Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petach Tikva, Israel
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Shalom Michowiz
    Department of Neurosurgery, Schneider Children’s Medical Center of Israel, , Israel, Petach Tikva, Israel
  • Nitza Goldenberg-Cohen
    Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petach Tikva, Israel
    Ophthalmology Department,, Bnai Zion Medical Center, , Haifa, Israel
  • Footnotes
    Commercial Relationships   Shirel Weiss, None; Helen Toledano, None; Orit Barinfeld, None; Shalom Michowiz, None; Nitza Goldenberg-Cohen, None
  • Footnotes
    Support  Eshkol grant for pesenolized medicine by Minstry of Science, Technology and Space, Israel. the Zanvyl and Isabelle Krieger Fund, Baltimore, MD
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 3325. doi:
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      Shirel Weiss, Helen Toledano, Orit Barinfeld, Shalom Michowiz, Nitza Goldenberg-Cohen; Mutation analysis of CDKN2A , MYB, MYBL1 and FGFR1 in pediatric low grade gliomas of the optic pathway. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3325.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Gliomas are the commonest type of brain tumors in children. The molecular mechanisms that underlie the development and progression of these tumors are as yet unclear. A better understanding of the molecular mechanisms may improve diagnosis and treatment. In this study we investigate pediatric low grade gliomas for specific mutations in IDH1, IDH2, CDKN2A, MYB, MYBL1 and FGFR1.

Methods : 60 LGG were collected according to institutional and national IRB approval. DNA and RNA were extracted. To detect deletion in CDKN2A and mutations in MYB and MYBL-1, PCR and RT- PCR were performed. RNA seq was performed for 5 grade II and one grade I samples.

Results : CDKN2A deletions in exon 1 and exon 2 were detected in one PXA sample only.
Analysis of the MYB gene revealed 4/9 translocations with exon 2 and 4/9 translocations with exon 3 of the PCDHGA1 gene. Analysis of MYBL -1 showed 6 samples with genetic re-arrangement.

Conclusions : Mutations in MYB, MYBL and FGFR1 genes were recently reported to characterize diffuse grade 2 gliomas but not grade I gliomas. We optimized methods for analyzing gene variations and correlated to pathological grade and prognosis. We compared DNA, RNA and RNA seq results for fusion, translocation and mutations. More accurate identification of the underlying biology of different gliomas and optic pathway gliomas may pave the way for personalized medicine. This will enable targeted treatment and more accurate classification.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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