PMID- 18563430
OWN - NLM
STAT- MEDLINE
DCOM- 20090410
LR  - 20211020
IS  - 1435-702X (Electronic)
IS  - 0721-832X (Linking)
VI  - 246
IP  - 11
DP  - 2008 Nov
TI  - Ciliary body melanoma with partial deletion of chromosome 3 detected with 
      multiplex ligation-dependent probe amplification.
PG  - 1637-40
LID - 10.1007/s00417-008-0855-y [doi]
AB  - 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.
FAU - Damato, E M
AU  - Damato EM
AD  - Department of Ophthalmology, University Hospital of Wales, Heath Park, Cardiff, 
      CF14 4XW, Wales, UK. Erika@Damato.co.uk
FAU - Damato, B
AU  - Damato B
FAU - Sibbring, J S
AU  - Sibbring JS
FAU - Coupland, S E
AU  - Coupland SE
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20080618
PL  - Germany
TA  - Graefes Arch Clin Exp Ophthalmol
JT  - Graefe's archive for clinical and experimental ophthalmology = Albrecht von 
      Graefes Archiv fur klinische und experimentelle Ophthalmologie
JID - 8205248
RN  - 0 (DNA Probes)
SB  - IM
MH  - Centromere
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 3
MH  - *Ciliary Body/surgery
MH  - DNA Probes
MH  - Female
MH  - Genetic Techniques
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Iridectomy
MH  - Melanoma/*genetics/pathology/surgery
MH  - Prognosis
MH  - Uveal Neoplasms/*genetics/pathology/surgery
MH  - Young Adult
EDAT- 2008/06/20 09:00
MHDA- 2009/04/11 09:00
CRDT- 2008/06/20 09:00
PHST- 2008/02/25 00:00 [received]
PHST- 2008/04/28 00:00 [accepted]
PHST- 2008/04/22 00:00 [revised]
PHST- 2008/06/20 09:00 [pubmed]
PHST- 2009/04/11 09:00 [medline]
PHST- 2008/06/20 09:00 [entrez]
AID - 10.1007/s00417-008-0855-y [doi]
PST - ppublish
SO  - Graefes Arch Clin Exp Ophthalmol. 2008 Nov;246(11):1637-40. doi: 
      10.1007/s00417-008-0855-y. Epub 2008 Jun 18.