Detection of genetic prognostic markers in uveal melanoma biopsies using fluorescence in situ hybridization.
OBJECTIVE
In uveal melanoma, specific chromosomal abnormalities are known to correlate with the risk of metastases; changes in chromosomes 3 and 8q correlate strongly with a decreased survival of the patient, whereas chromosome 6 abnormalities are associated with a better prognosis. Usually, karyotyping and fluorescence in situ hybridization (FISH) analysis are used to detect these abnormalities in resected tumor tissues. However, the evaluation of these chromosomal changes is compromised in patients treated with eye-retaining treatment protocols because of the lack of tumor material. The purpose of this study was to validate the use of FISH for the analysis of genetic prognostic markers.


METHODS
We analyzed 40 uveal melanoma fine needle aspiration biopsies (FNABs) and the corresponding main tumor with FISH.


RESULTS
All biopsies were found to contain tumor cells, and FISH analyses of the samples were successful in all cases. Statistical analysis showed very good agreement between the FISH results from the biopsies and those from the main tumor. In only 2 of 249 hybridizations did we find a small variation that could have led to a misclassification.


CONCLUSIONS
Our results indicate that the application of FISH to FNABs is a reliable method for assaying genetic prognostic parameters such as chromosome 3 loss and/or chromosome 8q gain. Implementation of this method in a diagnostic setting means that we are able to identify patients at risk of developing metastatic disease, not only in enucleated patients but also in cases treated with conservative treatment modalities such as radiotherapy.
Naus
Nicole C
NC
Department of Ophthalmology, Erasmus University Rotterdam, 3000 DR Rotterdam, the Netherlands.
Verhoeven
Anette C A
AC
van Drunen
Ellen
E
Slater
Rosalyn
R
Mooy
Cornelia M
CM
Paridaens
Dion A
DA
Luyten
Grégorius P M
GP
de Klein
Annelies
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D011379:Prognosis; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology*