{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Allinson LM"],"funding":["Great Ormond Street Hospital Charity","Cancer Research UK","Action Medical Research","NIHR Newcastle Biomedical Research Centre","Solving Kids' Cancer","Children's Cancer and Leukaemia Group"],"pagination":["747-753"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9826054"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["61(12)"],"pubmed_abstract":["ALK is the most commonly mutated oncogene in neuroblastoma with increased mutation frequency reported at relapse. Here we report the loss of an ALK mutation in two patients at relapse and a paired neuroblastoma cell line at relapse. ALK detection methods including Sanger sequencing, targeted next-generation sequencing and a new ALK Agena MassARRAY technique were used to detect common hotspot ALK variants in tumors at diagnosis and relapse from two high-risk neuroblastoma patients. Copy number analysis including single nucleotide polymorphism array and array comparative genomic hybridization confirmed adequate tumor cell content in DNA used for mutation testing. Case 1 presented with an ALK F1174L mutation at diagnosis with a variant allele frequency (VAF) ranging between 23.5% and 28.5%, b"],"journal":["Genes, chromosomes & cancer"],"pubmed_title":["Loss of ALK hotspot mutations in relapsed neuroblastoma."],"pmcid":["PMC9826054"],"funding_grant_id":["CRCPSC-Dec21\\100002","2390"],"pubmed_authors":["Potts A","Bown N","Tweddle DA","Allinson LM","Basta NO","McNally RJQ","Goodman A","Bashton M","McCorkindale M","Ng A","Thompson D","Gabriel AS"],"additional_accession":[]},"is_claimable":false,"name":"Loss of ALK hotspot mutations in relapsed neuroblastoma.","description":"ALK is the most commonly mutated oncogene in neuroblastoma with increased mutation frequency reported at relapse. Here we report the loss of an ALK mutation in two patients at relapse and a paired neuroblastoma cell line at relapse. ALK detection methods including Sanger sequencing, targeted next-generation sequencing and a new ALK Agena MassARRAY technique were used to detect common hotspot ALK variants in tumors at diagnosis and relapse from two high-risk neuroblastoma patients. Copy number analysis including single nucleotide polymorphism array and array comparative genomic hybridization confirmed adequate tumor cell content in DNA used for mutation testing. Case 1 presented with an ALK F1174L mutation at diagnosis with a variant allele frequency (VAF) ranging between 23.5% and 28.5%, b","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-05-31T22:22:26.672Z","creation":"2024-11-09T22:01:15.352Z"},"accession":"S-EPMC9826054","cross_references":{"pubmed":["36029175"],"doi":["10.1002/gcc.23093"]}}