How do genomic findings affect the prognosis of acute lymphoblastic leukemia (ALL)?

Updated: Oct 26, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Routine use of nextgen sequencing and other molecular methods is identifying recurrent genetic abnormalities with prognostic implications. Patel et al performed genome-wide analysis (GWAS) with single-nucleotide polymorphism (SNP) arrays on 70 patients with B-ALL. The most prevalent deletions occurred in CDKN2A, IKZF1 and PAX5. [18]  Other genes were affected at a lower frequency.

Liu et al performed GWAS on 264 cases of pediatric and young adult T-ALL72. NRAS/FLT3 mutations were associated with immature T-ALL, JAK3/STAT5B mutations were seen in HOXA1 deregulated ALL, PTPN2 mutations were seen in TLX1 deregulated T-ALL, and PIK3R1/PTEN mutations were seen in TAL1 deregulated ALL. Philadelphia chromosome–like ALL (a subtype of ALL with a poor prognosis that is amenable to treatment with tyrosine kinase inhibitors) was identifed by genomic studies. [19]

Further studies correlating genomic and clinical findings are ongoing. These studies will determine the prognostic implication of specific molecular findings and could allow for the development of targeted agents in these diseases.

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