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Results of the genomic analysis and hypothetical model of aggressive progression in this case. A heterozygous ALK F1245 mutation was detected at diagnosis. This mutation became homozygous at relapse due to acquired UPD at chromosome 2, leading to both the duplication of the mutant allele and loss of the wild type allele. The duplication might be due to clonal evolution, acquired later in the process of relapse. UPD, uniparental disomy.
