Telomere maintenance mechanisms are activated in ganglioneuroblastoma and ganglioneuroma - PubMed
4 hours ago
- #neuroblastoma
- #ganglioneuroblastoma
- #telomere maintenance
- Telomere maintenance mechanisms (TMM) are studied in ganglioneuroblastoma (GNB) and ganglioneuroma (GN).
- The study analyzed 321 neuroblastic tumors (NTs) in Japan, including 255 neuroblastoma (NB), 48 GNB, and 18 GN cases.
- Alternative lengthening of telomeres (ALT) was found in 15% of NB and 12.5% of GNB cases, but not in GN.
- High TERT expression was observed in 38% of NB, 23% of GNB, and 14% of GN cases.
- TMM activation was noted in 12/48 GNB and 1/18 GN cases, with GNB-nodular type showing similar activation rates to NB (48% vs. 39%).
- TMM-positive GNBs frequently had ATRX alterations and fewer TERT rearrangements.
- ALT-positive NTs commonly exhibited 7q gain, 17q gain, and 11q loss (83%).
- TMM serves as a poor prognostic marker for high-risk NB and aids in risk classification for GNBs.