4. Hrvatski kongres kliniËke citologije 4th Croatian Congress ... - Penta

Clinical Cytology - Plenary and Invited Lectures
JUVENILE MYELOMONOCYTIC LEUKEMIA WITH PTPN11 MUTATION IN A
23-MONTH-OLD GIRL
Jakovljević G1 , Kardum-Skelin I2 , Nakić M1 , Batinić D3 , Rogošić S1 1 Department of Hematology and Oncology, Pediatric Clinic, Children’s Hospital Zagreb,
Zagreb, Croatia
2 Laboratory for Cytology and Hematology, Clinic of Internal Medicine, Merkur
University Hospital, Zagreb, Croatia
3 University Hospital Center Zagreb, Department of Laboratory Diagnosis, Zagreb,
Croatia
Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder,
afflicting young children, with 2 years median age at diagnosis. The natural course of
JMML is rapidly fatal with 80% of patients surviving less than 3 years. Allogeneic hematopoietic
stem cell transplantation (HSCT) is the only curative treatment modality
for JMML, with event-free survival in about half of the children. We present a case of
23-month-old girl with JMML and a somatic PTPN11 mutation. She was hospitalized
due to upper respiratory tract infection, fever, rash and diarrhea. Enlarged liver, spleen,
mesenterial and retroperitoneal lymph nodes were observed at presentation as well as
severe elevation of white blood cell (WBC) count with monocytosis and myeloid progenitors
present in peripheral blood. Hemoglobin F was also elevated. Subsequently, her
bone marrow aspiration showed morphology suggestive of JMML, an unspecific immune
phenotype and normal karyotype. Mutation analysis revealed a mutation in the PTPN11
gene. The girl was diagnosed with JMML and treated with purinethol and low doses
of cytarabine which resulted in normalization of WBC count and decrease in liver and
spleen size. Her sister was a suitable bone marrow donor and allogeneic HSCT was
successfully performed. Five months later she is in a good condition and in a complete
remission of JMML. Early diagnosis and allogeneic HSCT were crucial for successful
treatment outcome.
gordanajakovljevic@yahoo.com
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4 th Croatian Congress of Clinical Cytology / 1 st Croatian Symposium of Analytical Cytology / 2 nd Croatian Symposium of Cytotechnology