Alternative Lengthening of Telomeres (ALT) in Neuroblastoma
- To establish telomere length measurement by quantitative polymerase chain reaction
(qPCR) as an alternative lengthening of telomeres (ALT) detection method in
- To determine the frequency of ALT in high-risk NB and the characteristics of ALT+ NB.
- To establish C-circle (extra-chromosomal telomeric DNA circles) level as a marker of
ALT activity in NB.
- To evaluate the prognostic significance of ALT in NB.
- To evaluate the utility of the C-circle assay for the detection of circulating tumor
DNA in NB patients with an ALT+ tumor.
OUTLINE: Archived tumor tissue and serum samples are analyzed for telomere length
measurement, frequency, and C-circle levels by PCR. Results are then compared with patients'
age at diagnosis and outcomes including survival data (event-free and overall survival).
The sensitivity and specificity, as well as the optimal cut-off, for telomere length (TL) qPCR as an ALT detection method
Loretta Lau, MD
Children's Hospital at Westmead
United States: Federal Government