April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Pheno-Genotypic Identification of Circulating Tumor Cells in Uveal Melanoma
Cinzia Mazzini; Pamela Pinzani; Francesca Salvianti; Daniela Massi; Giulia Pieretti; Giacomo Abbruzzese; Matteo Giuntoli; Mario Pazzagli; Ugo Menchini
Author Affiliations & Notes
  • Cinzia Mazzini
    Oto-Neuro-Ophthalmological Surgery,
    Clinical Physiopathology,
    University of Florence, Florence, Italy
  • Pamela Pinzani
    Clinical Physiopathology,
    University of Florence, Florence, Italy
  • Francesca Salvianti
    Clinical Physiopathology,
    University of Florence, Florence, Italy
  • Daniela Massi
    Division of Pathological Anatomy, Dep. of Critical Care Medicine and Surgery,
    University of Florence, Florence, Italy
  • Giulia Pieretti
    Oto-Neuro-Ophthalmological Surgery,
    Division of Pathological Anatomy, Dep. of Critical Care Medicine and Surgery,
    University of Florence, Florence, Italy
  • Giacomo Abbruzzese
    Oto-Neuro-Ophthalmological Surgery,
    University of Florence, Florence, Italy
  • Matteo Giuntoli
    Oto-Neuro-Ophthalmological Surgery,
    University of Florence, Florence, Italy
  • Mario Pazzagli
    Clinical Physiopathology,
    Division of Pathological Anatomy, Dep. of Critical Care Medicine and Surgery,
    University of Florence, Florence, Italy
  • Ugo Menchini
    Oto-Neuro-Ophthalmological Surgery,
    University of Florence, Florence, Italy
  • Footnotes
    Commercial Relationships  Cinzia Mazzini, None; Pamela Pinzani, None; Francesca Salvianti, None; Daniela Massi, None; Giulia Pieretti, None; Giacomo Abbruzzese, None; Matteo Giuntoli, None; Mario Pazzagli, None; Ugo Menchini, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1456. doi:
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      Cinzia Mazzini, Pamela Pinzani, Francesca Salvianti, Daniela Massi, Giulia Pieretti, Giacomo Abbruzzese, Matteo Giuntoli, Mario Pazzagli, Ugo Menchini; Pheno-Genotypic Identification of Circulating Tumor Cells in Uveal Melanoma. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1456.

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Abstract

Purpose: : Uveal Melanoma is the most common intraocular tumor.Patients with primary uveal melanoma show tumor cell dissemination and formation of metastases through the bloodstream.Pheno-genotypic markers can be used for the early detection of disseminated tumor cells.Analysis of circulating tumor cells (CTC) in the peripheral blood provides clinically useful information.Isolation by size of epithelial tumor cells(ISET/ScreenCell)is a direct method for CTC identification,in which tumor cells are collected by filtration.Upon isolation,the identity of tumor cells as melanoma cells can be supported by immunohistochemistry and their presence indirectly supported by mRNA tyrosinase levels.Recently a four color FISH probe assay has been devised by Abbot Molecular Laboratories for the identification of chromosomal abnormalities in melanocytic lesions.We investigated the presence of ISET-isolated CTC and we performed immunohistochemical and FISH analysis.

Methods: : 41 patients were longitudinally investigated over 5 years. mRNA tyrosinase levels were assessed by RT-PCR.Results were correlated with the number of CTC assessed by ISET.The identity of cells,trapped in filters and stained with H&E, as CTC was supported by positivity for immunohistochemical markers (S-100protein,Tyrosinase,MART-1/Melan A).The presence of chromosomal abnormalities of CTC was evaluated by FISH.

Results: : Increased mRNA tyrosinase levels were found in 20 of 41 patients and correlated with tumor dimensions (p<0,01),disease free and overall survival (p<0,05).CTC were isolated by ISET in 5/16 patients and the direct correlation between CTC values and tyrosinase levels was found.Immunohistochemical analysis confirmed the identification of tumor cells as melanoma cells.FISH analysis confirmed the presence of genetical abnormalities in CTC.

Conclusions: : Tyrosinase assay by RT-PCR is a non-invasive method for monitoring tumor progression in uveal melanoma. mRNA tyrosinase levels can be taken as an indirect parameter correlated to the number of CTC isolated from blood by ISET.FISH analysis may bring new tools for CTC characterization. Our results indicate the need for larger prospective studies with purposes including whether CTC may predict the behaviour of the entire pool of occult tumor cells and drug sensitivity of the corresponding tumor tissue.

Keywords: melanoma • uvea • in situ hybridization 
© 2011, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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