title: Clinical course of juvenile myelomonocytic leukemia in the blast crisis phase treated by acute myeloid leukemia-oriented chemotherapy and allogeneic hematopoietic stem cell transplantation.
abstract: Juvenile myelomonocytic leukemia (JMML) is a mixed myeloproliferative and myelodysplastic disorder that occurs in early childhood. The clinical course of JMML is highly variable. A third of patients follow a relatively indolent course, although approximately 15% cases are thought to develop acute myeloid leukemia, referred to as blast crisis. The etiology and clinical characteristics of blast crisis remain unclear. We document the case of a 27-month-old boy who presented with hepatosplenomegaly, skin rash, and lymphadenopathy. An initial diagnosis of acute erythroid leukemia was made according to the French-American-British classification. Following estimation of hypersensitivity to GM-CSF and genetic analysis of PTPN11, he was diagnosed with JMML in the blast crisis phase. Although he had several poor prognostic factors, including monosomy 7 and high HbF percentage, he achieved partial remission after treatment with acute myeloid leukemia-oriented chemotherapy followed by allogeneic hematopoietic stem cell transplantation. He has been in complete remission for over 6 years.
authors.affiliation: Department of Pediatrics, Kinki University School of Medicine, 377-2, Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ueda
authors.forename: Naoki
authors.initials: N
authors.lastname: Sakata
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.forename: Hirotoshi
authors.initials: H
authors.lastname: Sakaguchi
authors.forename: Xinan
authors.initials: X
authors.lastname: Wang
authors.forename: Yinyan
authors.initials: Y
authors.lastname: Xu
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Higa
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Takemura
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001752:Blast Crisis; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D008297:Male; D009154:Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D012074:Remission Induction; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11