PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia

Tomoko Yamamoto, Mariko Isomura, Yinyan Xu, Juan Liang, Hiroshi Yagasaki, Yoshiro Kamachi, Kazuko Kudo, Hitoshi Kiyoi, Tomoki Naoe, Seiji Kojma

Research output: Contribution to journalArticlepeer-review

53 Citations (Scopus)


PTPN11, the gene which encodes protein tyrosine phosphatase SHP-2, plays an important role in regulating intracellular signaling. Germline mutations in PTPN11 were first observed in Noonan syndrome, while somatic mutations were identified in hematological myeloid malignancies. Recently, PTPN11 mutations have been reported in children with acute lymphoblastic leukemia (ALL). In the present study, we investigated the prevalence of mutations in PTPN11, RAS and FLT3 in samples from 95 Japanese children with ALL. We observed exon 3 and 8 missense mutations of PTPN11 in 6 children with B precursor ALL. One patient with Down syndrome and ALL had PTPN11 mutation. We also identified RAS mutations in ten patients and FLT3 internal tandem duplication (FLT3/ITD) in one patient. None of the patients had simultaneous mutations in PTPN11 and RAS, while one patient had both PTPN11 and FLT3 mutations. These data suggest that PTPN11 mutation may play an important role for leukemogenesis in a proportion of children with ALL, particularly B precursor ALL.

Original languageEnglish
Pages (from-to)1085-1089
Number of pages5
JournalLeukemia Research
Issue number9
Publication statusPublished - 09-2006
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Hematology
  • Oncology
  • Cancer Research


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