PMC3929883_01
Clinical and histopathological features of the tumour carrying the TERT promoter mutation. (A) Solid growth pattern of atypical epitheloid melanocytes. Irregular distribution of melanin. (B) Confluent nests of atypical epitheloid melanocytes. Very rare mitoses.
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The tumour occurred in the posterior chamber of the right eye of a 57-year-old male patient of European ancestry, had a depth of 11.97 mm and a width of 12.62 mm, showed the characteristic mushroom shape, epitheloid histology and a low mitotic index (Figure 3).
TERT gene expression and tumour characteristics. The differences between microarray intensity values measured for the single cases and the mean of the whole cohort are plotted (right panel). The case carrying the TERT promoter mutation is indicated in black. Clinical, histopathological and molecular characteristics are indicated (left panel): status (0=alive, 1=death of other causes, 2=death of uveal melanoma metastasis), relapse (0=relapse free, 1=relapse), CNVs (1=monosomic or losses, 2=disomic, 3=trisomic or gains), mutations (0=wild type, 1=mutated). For details see Supplementary Table 1.
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TERT as revealed by microarray gene expression data shows that the tumour carrying the mutation, as well as several other tumours with wild-type TERT promoters, has elevated levels of TERT expression as compared with the mean of TERT expression in the whole cohort (Figure 4). The six tumours with the highest TERT expression levels did not metastasise (mean follow-up 33.3 months, range 16-64 months). However, despite this trend, high TERT expression levels are not significantly associated with disease-free survival (P=0.338) or other clinical, pathological or molecular features of the tumours (Figure 4; supplementary table 1).