NOTCH1 mutations in CLL associated with trisomy 12

Blood. 2012 Jan 12;119(2):329-31. doi: 10.1182/blood-2011-10-386144. Epub 2011 Nov 15.

Abstract

Two recent studies reported whole-genome sequencing of chronic lymphocytic leukemia (CLL) samples and found repeated mutations in the XPO1 and NOTCH1 genes. XPO1 was found mutated in 2.4% of cases, while NOTCH1 was found mutated in 12.2% or 15.1% of CLL samples. Here we report the results of sequencing of XPO1 and NOTCH1 in 186 CLL cases. Our results confirmed frequency of XPO1 mutations. However, we found only 5 NOTCH1 mutations in 127 IGVH unmutated/ZAP70(+) CLL samples (4%), and one mutation was found in IGVH mutated/ZAP70(-) CLL for a total percentage of 1.5%. Because 4 of 6 mutated samples also showed trisomy 12, we sequenced NOTCH1 in an additional 77 cases with trisomy 12 CLLs, including 47 IGVH unmutated/ZAP70(+) cases. Importantly, we found 41.9% NOTCH1 mutation frequency in aggressive trisomy 12 CLL cases. Our data suggest that activation of NOTCH1 plays a critical role in IGVH unmutated/ZAP70(+) trisomy 12 CLL.

MeSH terms

  • Chromosomes, Human, Pair 12 / genetics*
  • Cohort Studies
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Immunoglobulin Variable Region / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Mutation / genetics*
  • Mutation Rate
  • Prognosis
  • Receptor, Notch1 / genetics*
  • Trisomy*
  • ZAP-70 Protein-Tyrosine Kinase / genetics

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region
  • NOTCH1 protein, human
  • Receptor, Notch1
  • ZAP-70 Protein-Tyrosine Kinase
  • ZAP70 protein, human