TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors.

TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors.
Valentijn, L (2015),Nature Genetics (Link to abstract)

Whole-genome sequencing of 75 high-risk neuroblastoma tumor samples detected structural rearrangements and overexpression of TERT in 23%. This is the second most common alteration in HR-neuroblastomas after MYCN and associated with poor prognosis. TERT rearrangements, MYCN amplifications and ATRX deletions define 3 distinct, non-overlapping subgroups of high-risk neuroblastoma.


* Another paper in a series of recent studies showing that telomerase activation is common in high-risk neuroblastoma, mutually exclusive with ATRX deletion and MYCN amplification and associated with poor outcome.