May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Uveal Melanoma: Defining the Minimal Deleted Region on Chromosome 3 by LOH Analysis
Author Affiliations & Notes
  • M.A. Blasi
    Dept of Ophthalmology, Univ of L'Aquila, L'Aquila, Italy
  • I. Torrente
    CSS- Mendel Institute, Rome, Italy
  • S. Cappellacci
    Medical Genetics, S. Camillo-Forlanini Hospital, Rome, Italy
  • E. Flex
    Medical Genetics, S. Camillo-Forlanini Hospital, Rome, Italy
  • C. Mordenti
    Medical Genetics, Univ "La Sapienza" of Rome, Rome, Italy
  • E. Balestrazzi
    Medical Genetics, Univ "La Sapienza" of Rome, Rome, Italy
  • B. Dallapiccola
    Medical Genetics, CSS- Mendel Institute; University "La Sapienza", Rome, Italy
  • P. Grammatico
    Medical Genetics, CSS- Mendel Institute; University "La Sapienza", Rome, Italy
  • Footnotes
    Commercial Relationships  M.A. Blasi, None; I. Torrente, None; S. Cappellacci, None; E. Flex, None; C. Mordenti, None; E. Balestrazzi, None; B. Dallapiccola, None; P. Grammatico, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1568. doi:
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      M.A. Blasi, I. Torrente, S. Cappellacci, E. Flex, C. Mordenti, E. Balestrazzi, B. Dallapiccola, P. Grammatico; Uveal Melanoma: Defining the Minimal Deleted Region on Chromosome 3 by LOH Analysis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1568.

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

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Abstract

Abstract: : Purpose:The finding of a translocation with breakpoint at 3p13 in one of our uveal melanoma cell cultures and the evidence of recurrent primary aberrations of the mosomy 3 and loss of heterozygosity (LOH) of 3p, prompted us to delineate and define the breakpoint region at molecular level in order to obtain positional information on a candidate tumor suppressor gene in uveal melanoma. In the present study, we have mapped the short arm of chromosome 3 with highly informative markers to identify minimal common areas of allelic loss. Methods:Eight primary cell cultures were established from tumor specimens after informed consent in patients affected by uveal melanoma. DNA was isolated from blood and tumor samples and amplified by PCR using 10 microsatellite markers spanning the breakpoint region on 3p13: D3S1285-D3S1261-D3S1566-D3S2454-D3S1210-D3S1284-D3S2428-D3S3581-D3S2515-D3S3681. Results:LOH for at least one microsatellite marker was found on 3p13 in 5 of 8 (62%) of the tumors. Analysis of the LOH area identified a region of allelic loss flanked by markers D3S1566-D3S3581 (11 cM). Conclusions:The high resolution screening of the minimal trait of allelic loss on 3p13 performed in our study identified a region of putative homozygous deletion that can harbour candidate tumor suppressor genes. We are currently proceeding in the identification and isolation in this area of the genes involved in the pathogenesis of uveal melanoma.

Keywords: genetics • melanoma • uvea 
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