Dataset Information

UCL-ICH

ABSTRACT: Organisation EGAO00000000572

PROVIDER: EGAO00000000572 | EGA |

REPOSITORIES: EGA

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Publications

Telomerase activation by genomic rearrangements in high-risk neuroblastoma.

Peifer Martin M Hertwig Falk F Roels Frederik F Dreidax Daniel D Gartlgruber Moritz M Menon Roopika R Krämer Andrea A Roncaioli Justin L JL Sand Frederik F Heuckmann Johannes M JM Ikram Fakhera F Schmidt Rene R Ackermann Sandra S Engesser Anne A Kahlert Yvonne Y Vogel Wenzel W Altmüller Janine J Nürnberg Peter P Thierry-Mieg Jean J Thierry-Mieg Danielle D Mariappan Aruljothi A Heynck Stefanie S Mariotti Erika E Henrich Kai-Oliver KO Gloeckner Christian C Bosco Graziella G Leuschner Ivo I Schweiger Michal R MR Savelyeva Larissa L Watkins Simon C SC Shao Chunxuan C Bell Emma E Höfer Thomas T Achter Viktor V Lang Ulrich U Theissen Jessica J Volland Ruth R Saadati Maral M Eggert Angelika A de Wilde Bram B Berthold Frank F Peng Zhiyu Z Zhao Chen C Shi Leming L Ortmann Monika M Büttner Reinhard R Perner Sven S Hero Barbara B Schramm Alexander A Schulte Johannes H JH Herrmann Carl C O'Sullivan Roderick J RJ Westermann Frank F Thomas Roman K RK Fischer Matthias M

Nature 20151014 7575

Neuroblastoma is a malignant paediatric tumour of the sympathetic nervous system. Roughly half of these tumours regress spontaneously or are cured by limited therapy. By contrast, high-risk neuroblastomas have an unfavourable clinical course despite intensive multimodal treatment, and their molecular basis has remained largely elusive. Here we have performed whole-genome sequencing of 56 neuroblastomas (high-risk, n = 39; low-risk, n = 17) and discovered recurrent genomic rearrangements affectin ...[more]

PMID: 26466568

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Project description:BackgroundWhile the incidence of ulnar collateral ligament reconstruction (UCLR) has increased across all levels of play, few studies have investigated the long-term outcomes in nonprofessional athletes.PurposeTo determine the rate of progression to higher levels of play, long-term patient-reported outcomes (PROs), and long-term patient satisfaction in nonprofessional baseball players after UCLR.Study designCase series; Level of evidence, 4.MethodsWe evaluated UCLR patients who were nonprofessional baseball athletes aged <25 years at a minimum of 5 years postoperatively. Patients were assessed with the Kerlan-Jobe Orthopaedic Clinic Shoulder and Elbow Score (KJOC), the Timmerman-Andrews (T-A) Elbow score, the Mayo Elbow Performance Score (MEPS), and a custom return-to-play questionnaire.ResultsA total of 91 baseball players met the inclusion criteria, and 67 (74%) patients were available to complete the follow-up surveys at a mean follow-up of 8.9 years (range, 5.5-13.9 years). At the time of the surgery, the mean age was 18.9 ± 1.9 years (range, 15-24 years). Return to play at any level was achieved in 57 (85%) players at a mean time of 12.6 months. Twenty-two (32.8%) of the initial cohort returned to play at the professional level. Also, 43 (79.1%) patients who initially returned to play after surgery reported not playing baseball at the final follow-up; of those patients, 12 reported their elbow as the main reason for eventual retirement. The overall KJOC, MEPS, and T-A scores were 82.8 ± 18.5 (range, 36-100), 96.7 ± 6.7 (range, 75-100), and 91.9 ± 11.4 (range, 50-100), respectively . There was an overall satisfaction score of 90.6 ± 21.5 out of 100, and 64 (95.5%) patients reported that they would undergo UCLR again.ConclusionIn nonprofessional baseball players after UCLR, there was a high rate of progression to higher levels of play. Long-term PRO scores and patient satisfaction were high. The large majority of patients who underwent UCLR would undergo surgery again at long-term follow-up, regardless of career advancement.

Dataset Information

UCL-ICH

Publications

Telomerase activation by genomic rearrangements in high-risk neuroblastoma.

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