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


SARPER N. , Gelen S. , ZENGİN E. , DEMİRSOY U. , Ercin C.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.37, no.6, pp.486-487, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1097/mph.0000000000000363
  • Title of Journal : JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Page Numbers: pp.486-487

Abstract

A 9.5-year-old girl with malaise, fever, massive hepatosplenomegaly, anemia, leukocytosis (37.9x10(9)/L), monocytosis (1.48x10(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.