title: Juvenile myelomonocytic leukemia with PTPN11 mutation in a 23-month-old girl.
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.
authors.affiliation: Department of Hematology and Oncology, Pediatric Clinic, Children's Hospital Zagreb, Zagreb, Croatia. gordanajakovljevic@yahoo.com
authors.forename: Gordana
authors.initials: G
authors.lastname: Jakovljević
authors.forename: Ika
authors.initials: I
authors.lastname: Kardum-Skelin
authors.forename: Srdan
authors.initials: S
authors.lastname: Rogosić
authors.forename: Melita
authors.initials: M
authors.lastname: Nakić
mesh_terms: D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage; D044963:Biopsy, Fine-Needle; D003561:Cytarabine / Q000008:administration & dosage*; D004801:Eosine Yellowish-(YS); D005260:Female; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D015122:Mercaptopurine / Q000008:administration & dosage*; D008751:Methylene Blue; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: D000964:Antimetabolites, Antineoplastic; C043260:May-Grunwald Giemsa; D003561:Cytarabine; D015122:Mercaptopurine; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D008751:Methylene Blue; D004801:Eosine Yellowish-(YS)