Preliminary communication
Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl
Gordana Jakovljević
; Department of Hematology and Oncology, Pediatric Clinic, Children’s Hospital Zagreb, Zagreb, Croatia
Ika Kardum-Skelin
; University of Zagreb, School of Medicine, Zagreb, Croatia
Srđan Rogošić
; Department of Hematology and Oncology, Pediatric Clinic, Children’s Hospital Zagreb, Zagreb, Croatia
Melita Nakić
; University of Zagreb, School of Medicine, Zagreb, Croatia
Abstract
Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder affecting young children. The natural course of JMML is rapidly fatal with 80% of patients surviving less than three years. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment of JMML. We report a case of a 23-month-old girl who presented with an upper respiratory tract infection, fever, rash, diarrhea, hepatosplenomegaly and abdominal distention. Severe elevation of white blood cell count with monocytosis and myeloid progenitors in the peripheral blood was also detected. Bone marrow smear showed morphology suggestive of JMML, an unspecific immune phenotype and a normal karyotype. DNA analysis revealed a mutation in the PTPN11 gene. Therefore, the final diagnosis of JMML with somatic PTPN11 mutation was established. Following three months of cytostatic therapy with 6-mercaptopurine and low doses of cytarabine partial remission was achieved and allogeneic HSCT was successfully performed. Six months after the diagnosis, the girl was in a good condition and in a complete remission of JMML. Early diagnosis and allogeneic HSCT were crucial for successful treatment outcome.
Keywords
juvenile myelomonocytic leukemia; JMML; PTPN11 gene mutation
Hrčak ID:
51273
URI
Publication date:
10.3.2010.
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