Novel mutation found in patients with eye tumours

A research group from the Washington University School of Medicine, having previously identified mutations in the BAP1 gene in patients with eye tumours, has outlined a further mutation linked with the disease.

Uveal melanomas, or eye tumours, comprise of around 5% of all melanomas diagnosed. Normally present with few to no symptoms, the condition becomes fatal when the cancer spreads to the liver. A genetic approach would therefore be ideally suited to predicting the disease – performing a test for one genetic locus that identifies a patient, rather than attempting to track down subtle symptoms of the illness that may or may not be there.

BAP1 mutations appear to be connected with the disease subtype that leads to a poor prognosis and a high risk of fatality, also known as ‘class II’ tumors. The SF3B1 mutation was identified from studying the genotype of the patients further, and appears to be indicative of a good outcome for the disease – patients with this gene tended to have an earlier diagnosis, and a lower rate of metastasis (i.e. the cancer spreading to other tissues). In addition to this study, others have also outlined the SF3B1 mutation in myelodysplastic syndrome (or pre-leukemia illness), in which the mutation is also connected to a lower risk of fatality.

The SF3B1 gene is normally involved in transcription (where information from DNA is converted into RNA, which will in turn be used to make proteins by the cells); how mutations changes this process and lead to cancers will be the focus of further study. The researchers hope that a complete understanding of the tumour on a molecular level will be useful to both identify the tumours in the future, as well as being able to give a more detailed prognosis for each individual.

About Alena Isakova

Alena is a third year undergraduate in Biochemistry at Corpus Christi.