WT1 mutation in pediatric patients with acute myeloid leukemia: A report from the Japanese Childhood AML Cooperative Study Group

Hirozumi Sano, Akira Shimada, Ken Tabuchi, Tomohiko Taki, Chisato Murata, Myoung Ja Park, Kentaro Ohki, Manabu Sotomatsu, Souichi Adachi, Akio Tawa, Ryoji Kobayashi, Keizo Horibe, Masahiro Tsuchida, Ryoji Hanada, Ichiro Tsukimoto, Yasuhide Hayashi

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Mutations in Wilms tumor 1 (WT1) have been reported in 10-22 % of patients with cytogenetically normal acute myeloid leukemia (CN-AML), but the prognostic implications of these abnormalities have not been clarified in either adults or children. One hundred and fifty-seven pediatric AML patients were analyzed for WT1 mutations around hotspots at exons 7 and 9; however, amplification of the WT1 gene by the reverse transcriptase-polymerase chain reaction was not completed in four cases (2.5 %). Of the 153 evaluable patients, 10 patients (6.5 %) had a mutation in WT1. The incidence of WT1 mutations was significantly higher in CN-AML than in others (15.2 vs. 4.5 %, respectively, P = 0.03). Of the 10 WT1-mutated cases, eight (80 %) had mutations in other genes, including FLT3-ITD in two cases, FLT3-D835 mutation in two, KIT mutation in three, MLL-PTD in three, NRAS mutation in one, and KRAS mutation in two (in some cases, more than one additional gene was mutated). The incidences of KIT and FLT3-D835 mutations were significantly higher in patients with than in those without WT1 mutation. No significant differences were observed in the 3-year overall survival and disease-free survival; however, the presence of WT1 mutation was related to a poor prognosis in patients with CN-AML, excluding those with FLT3-ITD and those younger than 3 years.

Original languageEnglish
Pages (from-to)437-445
Number of pages9
JournalInternational Journal of Hematology
Issue number4
Publication statusPublished - Oct 2013



  • Acute myeloid leukemia
  • Cytogenetically normal acute myeloid leukemia
  • Prognosis
  • WT1 mutation

ASJC Scopus subject areas

  • Hematology

Cite this

Sano, H., Shimada, A., Tabuchi, K., Taki, T., Murata, C., Park, M. J., Ohki, K., Sotomatsu, M., Adachi, S., Tawa, A., Kobayashi, R., Horibe, K., Tsuchida, M., Hanada, R., Tsukimoto, I., & Hayashi, Y. (2013). WT1 mutation in pediatric patients with acute myeloid leukemia: A report from the Japanese Childhood AML Cooperative Study Group. International Journal of Hematology, 98(4), 437-445. https://doi.org/10.1007/s12185-013-1409-6