Which chromosomal abnormalities associated with pediatric acute lymphoblastic leukemia (ALL) are not revealed on routine testing?

Updated: Jan 03, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Jennifer Reikes Willert, MD  more...
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Answer

Genome-wide association studies (GWAS) use techniques that are not widely available to define genetic abnormalities in the 20% of B-lineage ALL cases where routine testing is unrevealing, demonstrating changes associated with poor outcome:

  • "Ph-like" ALL (10-15% of cases) with gene expression similar to Ph+ ALL which commonly have IZKF1 alteration, and in half of cases cryptic rearrangements of CRLF2 (cytokine receptor like factor 2). Approximately half of CRLF2 -rearranged cases have point mutations in Janus kinase (JAK) family members JAK1 and JAK2

  • Increased CRLF2 (cytokine receptor like factor 2) expression, which may have an underlying CRLF2 mutation (5-7% of cases). Interestingly, increased CRLF2 expression is also seen in 50% of the patients with Down syndrome and ALL, where its prognostic value is uncertain.


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