Paulsson K et al. – Microdeletions of key genes are acharacteristic feature of acute lymphoblastic leukemia (ALL) common among different clinical, morphological, and cytogenetic subgroups Methods
Genome-wide map of abnormalities in diagnostic samples from 45 adults and teens with ALL
500K SNP array analysis for frequent genetic abnormalities
Results
Of all detected changes, ~50% were cryptic deletions; 70% of cases had deletion of >=1 of the CDKN2A, PAX5, IKZF1, ETV6, RB1, and EBF1 genes
Several genes not previously implicated in ALL pathogenesis were possible recurrent targets of deletion
Analysis found 367 genetic abnormalities not corresponding to known copy number polymorphism; all but 2 cases (96%) had at least 1 cryptic change
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