%0 Journal Article
%A Saint-Charles, Alexandra
%A Masliah-Planchon, Julien
%A Saberi-Ansari, Elnaz
%A Bellini, Angela
%A Bernkopf, Marie
%A Font de Mora, Jaime
%A Salvá, Rosa Noguera
%A Van Roy, Nadine
%A Goodman, Angharad
%A Vicha, Ales
%A Attignon, Valery
%A Combaret, Valérie
%A Beiske, Klaus
%A Martinsson, Tommy
%A Schoumans, Jacqueline
%A Rossing, Maria
%A Tops, Bastiaan
%A Westermann, Frank
%A Cotteret, Sophie
%A Fischer, Matthias
%A Birger, Yehudit
%A Mazzocco, Katia
%A Chesler, Louis
%A Betts, David
%A Cowley, Mark
%A Capasso, Mario
%A Bobin, Charles
%A Iddir, Yasmine
%A Zaidi, Sakina
%A Carcaboso, Angel M
%A Vandermeulen, Joni
%A Loontiens, Siebe
%A Gaarder, Jennie
%A Ibrahim, Raghda R
%A Rosswog, Carolina
%A Hameiri-Grossman, Michal
%A Shichrur, Keren
%A Trahair, Toby
%A Barahona, Paulette
%A Eggert, Angelika
%A Deubzer, Hedwig E
%A Delattre, Olivier
%A Pasqualini, Claudia
%A George, Sally
%A Tytgat, Godelieve
%A Tweddle, Deborah A
%A Taschner-Mandl, Sabine
%A Schleiermacher, Gudrun
%T Harmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study.
%J The journal of molecular diagnostics
%V nn
%@ 1525-1578
%C Amsterdam [u.a.]
%I Elsevier
%M DKFZ-2025-02160
%P nn
%D 2025
%Z epub
%X 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
%K ALK genetic alteration (Other)
%K High-Risk neuroblastoma (Other)
%K International standardization test (Other)
%K Next-generation sequencing (Other)
%K Reporting results (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41110766
%R 10.1016/j.jmoldx.2025.09.007
%U https://inrepo02.dkfz.de/record/305442