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


CONCLUSIONS
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.
Department of Ophthalmology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, Wales, UK. Erika@Damato.co.uk
E M
EM
Damato
B
B
Damato
J S
JS
Sibbring
S E
SE
Coupland
D002503:Centromere; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002924:Ciliary Body / Q000601:surgery; D015342:DNA Probes; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D032801:Iridectomy; D008545:Melanoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011379:Prognosis; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D055815:Young Adult
D015342:DNA Probes