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000305442 1001_ $$aSaint-Charles, Alexandra$$b0
000305442 245__ $$aHarmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study.
000305442 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2025
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000305442 520__ $$aIn high-risk neuroblastoma, identification of ALK activating genetic alterations is considered for clinical decision-making in relapse or more recently frontline treatment. The accurate diagnosis of genetic alterations requires harmonization of molecular techniques and reporting especially when these are considered as inclusion criteria for clinical trials. Analysis and validation was preformed across the 21 SIOPEN (International Society of Paediatric Oncology Europe Neuroblastoma) molecular diagnostic laboratories, with 14 DNA samples harbouring distinct ALK alterations including ALK mutations in or outside hotspots in the tyrosine kinase domain (TKD) with variant allele frequencies (VAF) ranging from 1% to 91%, or ALK genomic amplification shared between the laboratories. Each laboratories employed their own established techniques: ALK amplifications were detected using either pan-genomic copy number techniques or fluorescence in situ hybridization and ALK mutations were characterized by Next Generation Sequencing (NGS) techniques. All laboratories correctly identified high-level ALK amplification and ALK mutations within the TKD hotspots with VAF >5%, with exception of 2 cases. Difference in interpretation and reporting was apparent for samples harbouring mutations with a VAF <5% or outside known hotspots. These results highlight the importance of standard operating procedures, standardized reporting, and the robustness of ALK genetic testing in the SIOPEN laboratories, as well as the need for expert discussions on atypical ALK alterations, to validate eligibility for ALK targeted treatment in clinical trials.
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000305442 650_7 $$2Other$$aALK genetic alteration
000305442 650_7 $$2Other$$aHigh-Risk neuroblastoma
000305442 650_7 $$2Other$$aInternational standardization test
000305442 650_7 $$2Other$$aNext-generation sequencing
000305442 650_7 $$2Other$$aReporting results
000305442 7001_ $$aMasliah-Planchon, Julien$$b1
000305442 7001_ $$aSaberi-Ansari, Elnaz$$b2
000305442 7001_ $$aBellini, Angela$$b3
000305442 7001_ $$aBernkopf, Marie$$b4
000305442 7001_ $$aFont de Mora, Jaime$$b5
000305442 7001_ $$aSalvá, Rosa Noguera$$b6
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000305442 7001_ $$aGoodman, Angharad$$b8
000305442 7001_ $$aVicha, Ales$$b9
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000305442 7001_ $$aMartinsson, Tommy$$b13
000305442 7001_ $$aSchoumans, Jacqueline$$b14
000305442 7001_ $$aRossing, Maria$$b15
000305442 7001_ $$aTops, Bastiaan$$b16
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000305442 7001_ $$aCotteret, Sophie$$b18
000305442 7001_ $$aFischer, Matthias$$b19
000305442 7001_ $$aBirger, Yehudit$$b20
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000305442 7001_ $$aChesler, Louis$$b22
000305442 7001_ $$aBetts, David$$b23
000305442 7001_ $$aCowley, Mark$$b24
000305442 7001_ $$aCapasso, Mario$$b25
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000305442 7001_ $$aVandermeulen, Joni$$b30
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000305442 7001_ $$aTweddle, Deborah A$$b45
000305442 7001_ $$aTaschner-Mandl, Sabine$$b46
000305442 7001_ $$aSchleiermacher, Gudrun$$b47
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