کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5718345 | 1411247 | 2016 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: PAPS PapersTelomere biology including TERT rearrangements in neuroblastoma: a useful indicator for surgical treatments PAPS PapersTelomere biology including TERT rearrangements in neuroblastoma: a useful indicator for surgical treatments](/preview/png/5718345.png)
PurposeOur telomere biology study of neuroblastomas (NBLs) has revealed that unfavorable NBLs acquired telomere stabilization by telomerase activation or ALT (alternative lengthening of telomeres). Recently, genomic rearrangements in a region proximal to the telomerase reverse transcriptase (TERT) gene have been discovered in NBLs. In this study, TERT rearrangements were examined in NBLs along with their relationship to other aspects of telomere biology.MethodsIn 121 NBLs, including 67 cases detected by mass-screening whose telomere length, telomerase activity, ALT with ATRX/DAXX alterations, and MYCN amplification were already known, TERT rearrangements were examined using GeneChip SNP arrays.ResultsThe 11 ATRX/DAXX mutated ALT cases and 29 cases with high telomerase activity showed poor prognosis. MYCN amplification and TERT rearrangements were independently detected in 16 and 13 cases, respectively, and these alterations were significantly correlated with high telomerase activity. In 81 infant cases, MYCN amplification, TERT rearrangements and ATRX mutations were detected in 3, 4, and 3 cases, respectively. Among them, 6 cases showed progression or recurrences.ConclusionsTelomere stabilization in NBLs is acquired by telomerase activation through MYCN amplification, TERT rearrangements or by ALT. Since these tumors usually show progression and recurrence, complete resection should be considered, even in infant cases.Level of evidencePrognosis study, level III.
Journal: Journal of Pediatric Surgery - Volume 51, Issue 12, December 2016, Pages 2080-2085