Which chromosomal abnormalities are associated with poor outcomes in pediatric acute lymphoblastic leukemia (ALL)?

Updated: Jan 02, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Jennifer Reikes Willert, MD  more...
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Other, less common, chromosomal abnormalities confer a poor outcome:

  • Extreme hypodiploidy with < 44 chromosomes/cell (1% of cases) which can be subdivided into near-haploid ALL (24–31 chromosomes) harboring mutations affecting receptor tyrosine kinase and RAS signaling, and low-hypodiploid ALL (32–39 chromosomes) characterized by alterations in TP53 as a manifestation of Li-Fraumeni Syndrome.

  • MLL gene rearrangement eg t(4;11)(q21;q23) (6% cases)

  • Philadelphia chromosome positivity t(9;22)(q34;q11) (3% cases)

  • Internal amplification of chromosome 21 (iAMP 21) (2% cases)

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