Promoting a new brain tumor mutation: TERT promoter mutations in CNS tumors

Excerpt

Genomic research has recently linked two fundamental observations about the molecular biology of cancer. The first of these pivotal observations is that cancer is essentially a genetic disease, with tumor cells driven to grow inappropriately by acquired genetic alterations that deregulate cellular molecular machinery. The second observation is that ~85 % of tumors contain upregulated activity of the ribonucleoprotein complex telomerase, which is thought to help tumor cells avoid senescence and achieve immortality by replenishing the telomere cap on the tips of chromatin. For many cancers, it remained unclear how telomerase activity came to be upregulated in the first place, with no obvious genetic cause to explain why telomerase activity was inappropriately “switched on”. Now, recent work has uncovered what may very well be the genetic basis for telomerase activation in many human cancers, particularly CNS tumors. This work, including discoveries reported in three articles and one letter in this issue of Acta Neuropathologica, centers around recurrent point mutations in the promoter of the telomerase reverse transcriptase gene (TERT). …