Chromosomal aberrations in iris melanomas

Hanneke Mensink (1) , Jolanda Vaarwater (2) , Rob J.W. de Keizer (3) , Didi de Wolff-Rouendaal (3) , Neeltje Mooy (2) , Annelies de Klein (2) , Dion Paridaens (1)

1 The Rotterdam Eye Hospital
2 ErasmusMC
3 LUMC - Leiden University Medical Center

Background. Uveal melanomas can develop in the choroid, ciliary body and in the iris. In choroidal and ciliary body melanomas specific chromosomal changes correlate with metastatic disease. Iris melanomas have a better prognosis than choroidal melanomas and it would be interesting to know if they share chromosomal changes. In addition, in iris melanomas UV-induced mutations of tumour suppressor genes, such as PTEN and CDKN2A can be expected. Methods. Twenty patients with iris melanomas were analyzed for chromosome 1p, 3, 6, 8, 9p and 10q abnormalities using fluorescence in situ hybridization. These results were correlated to clinical follow-up data using statistical analyses. Results. Loss of chromosome 3 was observed in 9 iris melanomas and gain of 8q was present in 7 tumours. Loss of chromosome 9p was demonstrated in 7 tumours but no deletions of the PTEN region of chromosome 10 were found. Three patients died of metastatic disease. However, no significant correlations between histopathological parameters or chromosomal changes were found. Conclusion. CDKN2A mutations might play a role in iris melanoma and monosomy 3 is not an indicator of poor prognosis.

Mots clés: Iris; Choroid; Genetics; Neoplasia

Hanneke Mensink, Jolanda Vaarwater, Rob J.W. de Keizer, Didi de Wolff-Rouendaal, Neeltje Mooy, et al.. Chromosomal aberrations in iris melanomas. British Journal of Ophthalmology, 2010, 95 (3), pp.424. ⟨10.1136/bjo.2010.181289⟩. ⟨hal-00580681⟩