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Published on: September 20, 2016
Juvenile myelomonocytic leukemia with PTPN11 mutation in a 23-month-old girl
Gordana Jakovljević1, Ika Kardum-Skelin, Srdan Rogosić
1Department of Hematology and Oncology, Pediatric Clinic, Children's Hospital Zagreb, Zagreb, Croatia. gordanajakovljevic@yahoo.com
Insights
Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer. Early diagnosis and allogeneic stem cell transplant offer a cure for this aggressive disease.
Area of Science:
- Pediatric Oncology
- Hematology
Background:
- Juvenile myelomonocytic leukemia (JMML) is a rare, aggressive childhood myeloproliferative disorder.
- The prognosis for JMML is poor, with a high mortality rate within three years.
- Allogeneic hematopoietic stem cell transplantation (HSCT) is the only potentially curative option for JMML.
Observation:
- A 23-month-old girl presented with symptoms including fever, rash, hepatosplenomegaly, and elevated white blood cell count with monocytosis.
- Bone marrow examination revealed morphology suggestive of JMML, with an unspecific immune phenotype and normal karyotype.
- Genetic analysis identified a PTPN11 gene mutation, confirming the diagnosis of JMML.
Findings:
- The patient received cytostatic therapy with 6-mercaptopurine and cytarabine, achieving partial remission.
- Successful allogeneic HSCT was performed.
- Six months post-transplant, the patient was in complete remission and good clinical condition.
Implications:
- This case highlights the importance of early diagnosis in managing JMML.
- Allogeneic HSCT is a critical intervention for achieving long-term survival in pediatric JMML patients.
- Identifying genetic mutations like PTPN11 is crucial for accurate JMML diagnosis and treatment planning.
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.
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