May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Whole Genome SNP Based Assay on Fine Needle Aspirate Biopsies of Uveal Melanoma: Identification of Novel Prognostic Markers
Author Affiliations & Notes
  • A. Ganguly
    University of Pennsylvania, Philadelphia, Pennsylvania
    Genetics,
  • G. Grant
    University of Pennsylvania, Philadelphia, Pennsylvania
    Bioinformatics,
  • M. A. Materin
    Ocular Oncology Services, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania
  • C. Shields
    Ocular Oncology Services, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania
  • Footnotes
    Commercial Relationships  A. Ganguly, None; G. Grant, None; M.A. Materin, None; C. Shields, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1297. doi:https://doi.org/
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      A. Ganguly, G. Grant, M. A. Materin, C. Shields; Whole Genome SNP Based Assay on Fine Needle Aspirate Biopsies of Uveal Melanoma: Identification of Novel Prognostic Markers. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1297. doi: https://doi.org/.

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

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Abstract

Purpose: : Uveal melanoma is the most common form of adult onset primary malignant intraocular tumor. Conventional cytogenetic and comparative genomic hybridization (CGH) assays on enucleated tumors have revealed that monosomy for chromosome 3 predicts significantly reduced disease free survival.

Methods: : In this project, whole genome SNP based assay (WGSA) on a series of 100 fine needle aspiration biopsy (FNAB) samples of small uveal melanoma and the corresponding matched blood samples using Affymetrix 50K SNP-CHIPs was performed.

Results: : The results of WGSA based copy number analysis confirmed previous observation and identified 3p, 3q, 1q, 6q, 8p and 8q, as the most significant regions of loss /amplification. Two novel regions on chromosome 4p and 9p were identified that critically correlated to clinical features.We next investigated the possibility of identifying SNP based biomarkers that are associated with tumors with bad prognosis. For this we focused our attention on SNPs present in metastasis associated genes. Preliminary analysis indicated presence of a subset of SNPs that can classify individuals with a bad prognosis.

Keywords: uvea • melanoma • gene microarray 
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