title: Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study.
abstract: BACKGROUND
  In uveal melanoma (UM), the most frequent primary intraocular tumour in adults, loss of one entire chromosome 3 (monosomy 3 (M3)) is observed in ~50% of tumours and is significantly associated with metastatic disease. The strong association of metastatic disease with M3 offers the opportunity for molecular prognostic testing of UM patients.
  
  
  METHODS
  To re-evaluate M3 as prognostic marker in our clinical and laboratory setting and to determine the metastatic potential of rare tumours with partial M3, we performed a comprehensive study on 374 UM patients treated by enucleation in our clinic within 10 consecutive years, starting in 1998. Genotyping of all tumours was performed by microsatellite analysis.
  
  
  RESULTS
  Median follow-up time was 5.2 years. The disease-specific mortality rates (death by UM metastases) for tumours with disomy 3 (D3) and M3 were 13.2% and 75.1%, respectively. The disease-specific survival was worse when M3 was observed together with chromosome 8 alterations (P=0.020). Death of UM metastases was also observed in 12 patients (9%) with D3 tumours. The metastasising D3 tumours showed a larger basal tumour diameter (P=0.007), and were more frequently of mixed or epitheloid cell type (P<0.0001) than D3 tumours that did not metastasise. Mortality rate of tumours showing partial M3 (8.3%) was as low as that for tumours with D3.
  
  
  CONCLUSIONS
  This shows that large tumours with disomy 3 have an increased risk to develop metastases. On the basis of these results, our clinic offers routine prognostic testing of UM patients by chromosome 3 typing.
authors.affiliation: Department of Ophthalmology, University Hospital of Essen, Hufelandstrasse 55, Essen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Pütter
authors.forename: S
authors.initials: S
authors.lastname: Weber
authors.forename: N
authors.initials: N
authors.lastname: Bornfeld
authors.forename: D R
authors.initials: DR
authors.lastname: Lohmann
authors.forename: M
authors.initials: M
authors.lastname: Zeschnigk
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000556:secondary; D018895:Microsatellite Repeats; D008875:Middle Aged; D009006:Monosomy; D011379:Prognosis; D016016:Proportional Hazards Models; D047368:Tumor Burden; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor