title: Nonsyndromic Juvenile Myelomonocytic Leukemia With PTPN11 Mutation in a 9-Year-old Girl.
abstract: 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.
authors.affiliation: *Department of Pediatrics, Division of Hematology †Department of Pathology, Kocaeli University, Kocaeli, Turkey.
authors.forename: Nazan
authors.initials: N
authors.lastname: Sarper
authors.forename: Sema Aylan
authors.initials: SA
authors.lastname: Gelen
authors.forename: Emine
authors.initials: E
authors.lastname: Zengin
authors.forename: Uğur
authors.initials: U
authors.lastname: Demirsoy
authors.forename: Cengiz
authors.initials: C
authors.lastname: Erçin
mesh_terms: D002648:Child; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11