TY  - JOUR
AU  - Saint-Charles, Alexandra
AU  - Masliah-Planchon, Julien
AU  - Saberi-Ansari, Elnaz
AU  - Bellini, Angela
AU  - Bernkopf, Marie
AU  - Font de Mora, Jaime
AU  - Salvá, Rosa Noguera
AU  - Van Roy, Nadine
AU  - Goodman, Angharad
AU  - Vicha, Ales
AU  - Attignon, Valery
AU  - Combaret, Valérie
AU  - Beiske, Klaus
AU  - Martinsson, Tommy
AU  - Schoumans, Jacqueline
AU  - Rossing, Maria
AU  - Tops, Bastiaan
AU  - Westermann, Frank
AU  - Cotteret, Sophie
AU  - Fischer, Matthias
AU  - Birger, Yehudit
AU  - Mazzocco, Katia
AU  - Chesler, Louis
AU  - Betts, David
AU  - Cowley, Mark
AU  - Capasso, Mario
AU  - Bobin, Charles
AU  - Iddir, Yasmine
AU  - Zaidi, Sakina
AU  - Carcaboso, Angel M
AU  - Vandermeulen, Joni
AU  - Loontiens, Siebe
AU  - Gaarder, Jennie
AU  - Ibrahim, Raghda R
AU  - Rosswog, Carolina
AU  - Hameiri-Grossman, Michal
AU  - Shichrur, Keren
AU  - Trahair, Toby
AU  - Barahona, Paulette
AU  - Eggert, Angelika
AU  - Deubzer, Hedwig E
AU  - Delattre, Olivier
AU  - Pasqualini, Claudia
AU  - George, Sally
AU  - Tytgat, Godelieve
AU  - Tweddle, Deborah A
AU  - Taschner-Mandl, Sabine
AU  - Schleiermacher, Gudrun
TI  - Harmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study.
JO  - The journal of molecular diagnostics
VL  - nn
SN  - 1525-1578
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DKFZ-2025-02160
SP  - nn
PY  - 2025
N1  - epub
AB  - 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
KW  - ALK genetic alteration (Other)
KW  - High-Risk neuroblastoma (Other)
KW  - International standardization test (Other)
KW  - Next-generation sequencing (Other)
KW  - Reporting results (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:41110766
DO  - DOI:10.1016/j.jmoldx.2025.09.007
UR  - https://inrepo02.dkfz.de/record/305442
ER  -