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Ciliary body melanoma with partial deletion of chromosome 3 detected with multiplex ligation-dependent probe amplification

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Abstract

Background

The management of a patient with a small, pigmented ciliary body tumour is controversial, the various options including observation, radiotherapy, fine needle aspiration biopsy and excision biopsy. We report a case of ciliary body melanoma with partial deletion of chromosome 3, which was missed with fluorescence in situ hybridization (FISH) but detected with multiplex ligation-dependent probe amplification (MLPA).

Methods

A 23-year-old woman underwent an excision biopsy for a 4.5 mm by 3.9 mm by 2.0 mm ciliary body tumour, which was assessed by histology, immunohistochemistry, FISH and MLPA.

Results

Histology showed the tumour to a melanoma of mixed cell type. FISH with a centromeric probe indicated that the tumour was of disomy 3 type with a good prognosis; however, MLPA revealed a partial deletion of the long arm of chromosome 3.

Conclusion

This case highlights the limitations of FISH, and demonstrates the value of MLPA in testing multiple chromosomal loci of prognostic significance. To our knowledge this is the first reported case of ciliary body melanoma assessed by MLPA.

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Acknowledgements

We thank Merseyside and Cheshire Cytogenetics Laboratory for the cytogenetics shown in Figs. 4 and 5.

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Authors and Affiliations

  1. Department of Ophthalmology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, Wales, UK

    E. M. Damato

  2. Ocular Oncology Service, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK

    B. Damato

  3. Cheshire and Merseyside Regional Molecular Genetics Laboratory, Liverpool Womens Hospital, Crown Street, Liverpool, L8 7SS, UK

    J. S. Sibbring

  4. Department of Pathology, Royal Liverpool University Hospital, Duncan Building, Daulby St, Liverpool, L7 8XP, UK

    S. E. Coupland

  5. Medical Ophthalmology Registrar, Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, UK

    E. M. Damato

Authors
  1. E. M. Damato
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  2. B. Damato
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  3. J. S. Sibbring
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  4. S. E. Coupland
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Corresponding author

Correspondence to E. M. Damato.

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Damato, E.M., Damato, B., Sibbring, J.S. et al. Ciliary body melanoma with partial deletion of chromosome 3 detected with multiplex ligation-dependent probe amplification. Graefes Arch Clin Exp Ophthalmol 246, 1637–1640 (2008). https://doi.org/10.1007/s00417-008-0855-y

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  • DOI: https://doi.org/10.1007/s00417-008-0855-y

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