April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Absence Of Park2 Mutations In Uveal Melanoma Patients
Author Affiliations & Notes
  • Thomas van den Bosch
    Ocular Oncology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • Jolanda Vaarwater
    Clinical Genetics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • Hanneke Mensink
    Ocular Oncology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • Emine Kilic
    Ophthalmology,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • Dion Paridaens
    Ocular Oncology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • Annelies de Klein
    Clinical Genetics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • Footnotes
    Commercial Relationships  Thomas van den Bosch, None; Jolanda Vaarwater, None; Hanneke Mensink, None; Emine Kilic, None; Dion Paridaens, None; Annelies de Klein, None
  • Footnotes
    Support  SWOO, Professor Henkes Foundation
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1437. doi:
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    • Get Citation

      Thomas van den Bosch, Jolanda Vaarwater, Hanneke Mensink, Emine Kilic, Dion Paridaens, Annelies de Klein; Absence Of Park2 Mutations In Uveal Melanoma Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1437.

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

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Abstract

Purpose: : Uveal melanoma (UM) is the most frequently occurring intra-ocular malignancy in adults. Half of all patients eventually develop (liver) metastasis regardless of local therapy. Most UMs show aberrations on the chromosomes 1, 3, 6 and 8. Recently, inactivating somatic mutations and intragenic deletions were found in the PARK2 gene, located on 6q25.2-q27, in different human malignancies (Veeriah et al, 2010). In this study we search for somatic mutations of the PARK2-gene in UM patients with loss of chromosome 6q.

Methods: : Tumor tissue from enucleated eyes was tested for loss of chromosome 6q by Fluorescence In Situ Hybridization (FISH). Deletions or duplications of PARK2 exon sequences were assayed with Multiplex Ligation dependent Probe Amplification (MLPA) using the SALSA P051 probe kit. Standard PCR resequencing was conducted of all 12 exons of the PARK2 gene.

Results: : In 16 out of 57 (28%) cases loss of 6q25.2-q27 was found. PCR sequencing revealed basepair changes in all cases, but these all corresponded to known SNPs. None of the mutations described in the literature was found in our group of UM patients.

Conclusions: : PCR sequencing revealed no somatic mutations of the PARK2 gene in UM patients with loss of chromosome 6q. Thus unlike other solid tumors PARK2 gene loss is not accompanying chromosome 6 loss in uveal melanoma.

Keywords: tumors • uvea • genetics 
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