Nonsyndromic Juvenile Myelomonocytic Leukemia With PTPN11 Mutation in a 9-Year-old Girl

J Pediatr Hematol Oncol. 2015 Aug;37(6):486-7. doi: 10.1097/MPH.0000000000000363.


A 9.5-year-old girl with malaise, fever, massive hepatosplenomegaly, anemia, leukocytosis (37.9 × 10(9)/L), monocytosis (1.48 × 10(9)/L), and thrombocytopenia is presented. Hemoglobin F was increased (18%). Bone marrow erythroid/myeloid ratio was 40/1 with 7% myeloblast and 5% monocyte suggesting erythroleukemia or juvenile myelomonocytic leukemia (JMML). The patient had a fulminant course with respiratory compromise and died in 2 weeks before heterozygous somatic mutation in the PTPN11 gene was shown. JMML must be considered also in the patients older than 6 years. A cytopenic phase may precede JMML. Leucocytosis may be transient and there may be predominance of erythroid precursors in the bone marrow.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Fatal Outcome
  • Female
  • Heterozygote
  • Humans
  • Leukemia, Myelomonocytic, Juvenile / diagnosis*
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Mutation / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*


  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11