TET2 SNP rs2454206 (I1762V) Correlates with Improved Survival In Pediatric Acute Myelogenous Leukemia, a Report From the Children's Oncology Group

• Published in: Blood 2010-11, Vol.116 (21), p.949-949
• Main Authors: Kutny, Matthew A., Alonzo, Todd A., Gerbing, Robert B., Ho, Phoenix A., Geraghty, Daniel, Lange, Beverly, Heerema, Nyla A., Meshinchi, Soheil
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V116.21.949.949

Abstract 949 Deletions and rearrangements involving chromosome 4q24 in patients with myelodysplastic syndrome led to the discovery that the TET2 gene found in this genomic region may contribute to myeloid leukemogenesis. Mutations in this gene were identified in AML that correlated with clinical outcome. We screened genomic DNA extracted from diagnostic specimens of a cohort of 169 pediatric de novo AML patients treated on the Children's Cancer Group study CCG-2961 for genomic alterations in the TET2 gene. Twenty one primer pairs were used to amplify and sequence the entire coding sequence (11 exons) as well as flanking promoter and non-coding regions of TET2. We identified 10 different previously annotated single nucleotide polymorphisms (SNPs) with prevalence greater than 4% in addition to 12 disease associated mutations. Presence of each SNP as well as the mutations as a group were correlated with disease characteristics and clinical outcome. Of the 10 SNPs evaluated, one SNP correlated significantly with outcome. The minor allele of SNP rs2454206 (I1762V) was found in 54% of samples tested. There was no significant difference in the age or gender of patients with or without SNP rs2454206. The prevalence of SNP rs2454206 varied in different ethnic groups. Of the 92 patients with SNP rs2454206, 85% were Caucasian and 3% were African American compared to 56% and 15% of those without the SNP, respectively (p