Pediatric acute lymphoblastic leukemia (ALL) has a very favorable prognosis, effective treatment protocols and display a cure rate of more than 80%. However, adult ALL is associated with a much poorer prognosis; the long-term survival rate for adult cases is only a mere 30-40%, decreasing with higher age. For an improved prognosis and better treatment stratification in adult ALL, it is important to identify acquired genetic aberrations that could be linked to outcome. We present here the largest SNP array analysis to date, covering 5 million markers with a resolution of 10kb to investigate a consecutive series of 215 adult ALL cases, including samples obtained at diagnosis and relapse. We detected characteristic deletions, such as CDKN2A, PAX5, IKZF1, ETV6, RB1, and EBF1 genes.  In addition, the investigation uncovered several recurrent cryptic genetic events not previously implicated in adult ALL; the BCAT1, SERP2, RAB30, SRPR, ST3GAL4, ASS1, RASSF3, FUBP3, BCL11A, GAB1, LINGO2, TOX, and CXCR4 genes. Other frequent abnormalities included both partial and whole-chromosome uniparental isodisomies. Our findings provide insights into the leukemogenic process and may be clinically important in adult ALL.

Disclosures:

No relevant conflicts of interest to declare.

Author notes

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Asterisk with author names denotes non-ASH members.

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