New advances in genetic tests for UM prognostication

Prognostication is term used in medicine to estimate how severe a disease could be. In the setting of UM, “prognostication” is generally used to estimate the chances of a patient developing metastatic disease.

One of the most common mutations that initiates UM devellopemnt occurs in the gene coding for the BRCA1-associated protein (BAP1). The BAP1 gene is mutated in almost 50% of all UM cases and associated with high risk tumours – tumours with high chances of producing metastatic disease; this gene is located on chromosome 3, being one of the many genes “coded” on this chromosome.

Findings from this study showed that patients with uveal melanomas carrying a partial deletion of chromosome 3, in the area where BAP1 is coded, have a poor prognosis compared with patients whose uveal melanomas lack such deletion.

As said by Dr. Rodrigues : “Studies on uveal melanomas…have demonstrated the prognostic value of 8q gain and monosomy 3, but the prognosis of UMs with partial deletion of chromosome 3 remains to be defined…These findings suggest that partial deletion of chromosome 3 encompassing the BAP1 locus is associated with poor prognosis. A cytogenetic classification of UMs could be proposed based on the status of the BAP1 locus instead of the chromosome 3 locus, while also taking chromosome 8q into account”.

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