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

Sarper, Nazan MD*; Gelen, Sema Aylan MD*; Zengin, Emine MD*; Demirsoy, Uğur MD*; Erçin, Cengiz MD

Journal of Pediatric Hematology/Oncology: August 2015 - Volume 37 - Issue 6 - p 486–487
doi: 10.1097/MPH.0000000000000363
Clinical and Laboratory Observations

A 9.5-year-old girl with malaise, fever, massive hepatosplenomegaly, anemia, leukocytosis (37.9×109/L), monocytosis (1.48×109/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.

*Department of Pediatrics, Division of Hematology

Department of Pathology, Kocaeli University, Kocaeli, Turkey

The authors declare no conflict of interest.

Reprints: Nazan Sarper, MD, Kocaeli University, Medical Faculty Hospital, 2nd Floor, Umuttepe-Kocaeli 41380, Turkey (e-mail:

Received January 12, 2015

Accepted April 21, 2015

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