WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population

Abstract

Acute myeloid leukemia (AML) is relatively rare in children. Somatic mutations including the single nucleotide polymorphism (SNP) rs16754 in Wilms tumor 1 gene (WT1) and their prognostic relevance in pediatric AML have not been studied in Chinese populations. We analyzed WT1 mutations and rs16754 genotypes in a cohort of 86 patients with de novo pediatric AML in a Chinese population. We detected WT1 mutations in approximately 20% of the patients. Most of the mutations identified were deletions and insertions clustered in exons 7 and 9. No differences were observed with respect to overall survival and relapse-free survival between patients with and without WT1 mutations. The analysis of rs16754 in WT1 exon 7 revealed G as the major allele. Patients with the rs16754^GG genotype had improved overall survival (p =0.020) and relapse-free survival (p =0.025) compared with those with either rs16754^GA or rs16754^AA. Moreover, better overall survival (p =0.044) and relapse-free survival (p =0.068) were observed among patients with wild-type CEBPA with rs16754^GG compared with those carrying rs16754^GA/AA.

Keywords::

• Acute myeloid leukemia
• WT1
• SNP
• childhood
• outcome

Acknowledgements

The authors would like to express their gratitude to the patients, families and physicians who participated in this study. The work was supported in part by grants from the Chongqing Science and Technology Commission (CSTC2009AB5217) and Shanghai Shen Kang Hospital Development Center (SHDC12007201).

Potential conflict of interest

Disclosure forms provided by the authors are available with the full text of this article at www.informahealthcare.com/lal.