May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Detection of Mutations in MITF Gene in Two Cell Cultures of Uveal Melanoma
Author Affiliations & Notes
  • M. A. Blasi
    Dept of Ophthalmology, University of L Aquila, L''Aquila, Italy
  • P. Grammatico
    Medical Genetics, University of Rome "La Sapienza", Rome, Italy
  • N. Preziosi
    Medical Genetics, University of Rome "La Sapienza", Rome, Italy
  • A. C. Tiberti
    Dept of Ophthalmology, Catholic University, Rome, Italy
  • E. Balestrazzi
    Dept of Ophthalmology, Catholic University, Rome, Italy
  • Footnotes
    Commercial Relationships M.A. Blasi, None; P. Grammatico, None; N. Preziosi, None; A.C. Tiberti, None; E. Balestrazzi, None.
  • Footnotes
    Support None.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 4774. doi:
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    • Get Citation

      M. A. Blasi, P. Grammatico, N. Preziosi, A. C. Tiberti, E. Balestrazzi; Detection of Mutations in MITF Gene in Two Cell Cultures of Uveal Melanoma. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4774.

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

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Abstract

Purpose:: To identify any possible mutations in Microphthalmia-Associated Transcription Factor (MITF) gene in cell cultures of uveal melanoma.

Methods:: Cell coltures from uveal melanoma samples (UM, n = 18) were collected from eyes, enucleated for large choroidal and ciliary body melanomas. Uveal melanoma cells were isolated after mechanical dissection. Dna was extracted from the cells using a Qiagen kit (Blood Mini Kit).

Results:: MITF sequence analysis revealed the presence of two variants: p.E318K and p.C337F; both mutations were localized in 9 exon (which is present in all isoforms), in two different samples MKTBR and MUF1. p.E318K is a missense mutation: it was detected in the MKT-BR cell line and represents an acid to basic R group substitution. p.C337F (MUF1) is a missense mutation with an hydrophilic to hydrophobic substitution. No variations were detected in 200 control chromosomes.

Conclusions:: MITF acts as a regulator of melanocyte development, function and survival. Its oncogenic role has been demonstrated in human cutaneous melanoma and in human clear cell sarcoma. Both mutations identified in this study are localized in the DNA binding region of the protein and can therefore lead to MITF function modification.

Keywords: melanoma • mutations • tumors 
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