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| 001 | 305442 | ||
| 005 | 20251022115523.0 | ||
| 024 | 7 | _ | |a 10.1016/j.jmoldx.2025.09.007 |2 doi |
| 024 | 7 | _ | |a pmid:41110766 |2 pmid |
| 024 | 7 | _ | |a 1525-1578 |2 ISSN |
| 024 | 7 | _ | |a 1943-7811 |2 ISSN |
| 037 | _ | _ | |a DKFZ-2025-02160 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Saint-Charles, Alexandra |b 0 |
| 245 | _ | _ | |a Harmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study. |
| 260 | _ | _ | |a Amsterdam [u.a.] |c 2025 |b Elsevier |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1761039893_1629877 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a epub |
| 520 | _ | _ | |a In high-risk neuroblastoma, identification of ALK activating genetic alterations is considered for clinical decision-making in relapse or more recently frontline treatment. The accurate diagnosis of genetic alterations requires harmonization of molecular techniques and reporting especially when these are considered as inclusion criteria for clinical trials. Analysis and validation was preformed across the 21 SIOPEN (International Society of Paediatric Oncology Europe Neuroblastoma) molecular diagnostic laboratories, with 14 DNA samples harbouring distinct ALK alterations including ALK mutations in or outside hotspots in the tyrosine kinase domain (TKD) with variant allele frequencies (VAF) ranging from 1% to 91%, or ALK genomic amplification shared between the laboratories. Each laboratories employed their own established techniques: ALK amplifications were detected using either pan-genomic copy number techniques or fluorescence in situ hybridization and ALK mutations were characterized by Next Generation Sequencing (NGS) techniques. All laboratories correctly identified high-level ALK amplification and ALK mutations within the TKD hotspots with VAF >5%, with exception of 2 cases. Difference in interpretation and reporting was apparent for samples harbouring mutations with a VAF <5% or outside known hotspots. These results highlight the importance of standard operating procedures, standardized reporting, and the robustness of ALK genetic testing in the SIOPEN laboratories, as well as the need for expert discussions on atypical ALK alterations, to validate eligibility for ALK targeted treatment in clinical trials. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a ALK genetic alteration |2 Other |
| 650 | _ | 7 | |a High-Risk neuroblastoma |2 Other |
| 650 | _ | 7 | |a International standardization test |2 Other |
| 650 | _ | 7 | |a Next-generation sequencing |2 Other |
| 650 | _ | 7 | |a Reporting results |2 Other |
| 700 | 1 | _ | |a Masliah-Planchon, Julien |b 1 |
| 700 | 1 | _ | |a Saberi-Ansari, Elnaz |b 2 |
| 700 | 1 | _ | |a Bellini, Angela |b 3 |
| 700 | 1 | _ | |a Bernkopf, Marie |b 4 |
| 700 | 1 | _ | |a Font de Mora, Jaime |b 5 |
| 700 | 1 | _ | |a Salvá, Rosa Noguera |b 6 |
| 700 | 1 | _ | |a Van Roy, Nadine |b 7 |
| 700 | 1 | _ | |a Goodman, Angharad |b 8 |
| 700 | 1 | _ | |a Vicha, Ales |b 9 |
| 700 | 1 | _ | |a Attignon, Valery |b 10 |
| 700 | 1 | _ | |a Combaret, Valérie |b 11 |
| 700 | 1 | _ | |a Beiske, Klaus |b 12 |
| 700 | 1 | _ | |a Martinsson, Tommy |b 13 |
| 700 | 1 | _ | |a Schoumans, Jacqueline |b 14 |
| 700 | 1 | _ | |a Rossing, Maria |b 15 |
| 700 | 1 | _ | |a Tops, Bastiaan |b 16 |
| 700 | 1 | _ | |a Westermann, Frank |0 P:(DE-He78)91f32735ee876c579d63c05a7f4778dd |b 17 |u dkfz |
| 700 | 1 | _ | |a Cotteret, Sophie |b 18 |
| 700 | 1 | _ | |a Fischer, Matthias |b 19 |
| 700 | 1 | _ | |a Birger, Yehudit |b 20 |
| 700 | 1 | _ | |a Mazzocco, Katia |b 21 |
| 700 | 1 | _ | |a Chesler, Louis |b 22 |
| 700 | 1 | _ | |a Betts, David |b 23 |
| 700 | 1 | _ | |a Cowley, Mark |b 24 |
| 700 | 1 | _ | |a Capasso, Mario |b 25 |
| 700 | 1 | _ | |a Bobin, Charles |b 26 |
| 700 | 1 | _ | |a Iddir, Yasmine |b 27 |
| 700 | 1 | _ | |a Zaidi, Sakina |b 28 |
| 700 | 1 | _ | |a Carcaboso, Angel M |b 29 |
| 700 | 1 | _ | |a Vandermeulen, Joni |b 30 |
| 700 | 1 | _ | |a Loontiens, Siebe |b 31 |
| 700 | 1 | _ | |a Gaarder, Jennie |b 32 |
| 700 | 1 | _ | |a Ibrahim, Raghda R |b 33 |
| 700 | 1 | _ | |a Rosswog, Carolina |b 34 |
| 700 | 1 | _ | |a Hameiri-Grossman, Michal |b 35 |
| 700 | 1 | _ | |a Shichrur, Keren |b 36 |
| 700 | 1 | _ | |a Trahair, Toby |b 37 |
| 700 | 1 | _ | |a Barahona, Paulette |b 38 |
| 700 | 1 | _ | |a Eggert, Angelika |0 P:(DE-HGF)0 |b 39 |
| 700 | 1 | _ | |a Deubzer, Hedwig E |0 P:(DE-HGF)0 |b 40 |
| 700 | 1 | _ | |a Delattre, Olivier |b 41 |
| 700 | 1 | _ | |a Pasqualini, Claudia |b 42 |
| 700 | 1 | _ | |a George, Sally |b 43 |
| 700 | 1 | _ | |a Tytgat, Godelieve |b 44 |
| 700 | 1 | _ | |a Tweddle, Deborah A |b 45 |
| 700 | 1 | _ | |a Taschner-Mandl, Sabine |b 46 |
| 700 | 1 | _ | |a Schleiermacher, Gudrun |b 47 |
| 773 | _ | _ | |a 10.1016/j.jmoldx.2025.09.007 |g p. S1525157825002508 |0 PERI:(DE-600)2032654-3 |p nn |t The journal of molecular diagnostics |v nn |y 2025 |x 1525-1578 |
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