MELANOMA AND MENINGIOMA TUMOURS
Uveal melanoma is the most common primary intraocular malignancy in adults, with an incidence 6/million per year (lifetime risk 1 in 2,500) (Canning and Hungerford 1988). Familial cases are uncommon and account for about 0.6 % of all patients (Singh et al. 1996). Canning and Hungerford (1988) reviewed 14 kindreds with familial ocular melanoma. The mean age at diagnosis is significantly younger in familial than in sporadic cases (42 and 56 years, respectively), and inheritance can be autosomal dominant with incomplete penetrance. Intraocular melanoma may be associated with familial atypical mole-melanoma syndrome, ocular melanocytosis, and neurofibromatosis type 1 (Singh et al. 1995). Though a few studies have suggested that uveal melanoma might be linked to breast cancer (in particular BRCA2 mutations), this link does not appear to be a frequent cause of uveal melanoma (Harbour 2012).
The most commonly detected somatic mutations in uveal melanoma are missense mutations in GNAQ or GNA11 genes (~80 % of cases) and inactivating mutations in BAP1 (~50 % of cases) (van Raamsdonk et al. 2010; Harbour et al. 2010). Germline BAP1 mutations can predispose to a multiple system-inherited cancer syndrome characterized by susceptibility to uveal melanoma and other Tumours including cutaneous melanocytic Tumours, malignant mesothelioma, lung adenocarcinoma, and abdominal adenocarcinoma (Testa et al. 2011; Abdel-Rahman et al. 2011). Familial uveal melanoma is now thought to account for 2–5 % of all cases (Harbour 2012).
Intraorbital meningioma is an uncommon Tumours that may present at any age but predominantly occurs in middle-aged women. Most Tumours are unilateral, but a small proportion of patients have bilateral involvement. Optic nerve sheath meningioma may complicate NF2, when it is usually unilateral but can be bilateral (Jain et al. 2010).