Clinical course of juvenile myelomonocytic leukemia in the blast crisis phase treated by acute myeloid leukemia-oriented chemotherapy and allogeneic hematopoietic stem cell transplantation

• Published in: International journal of hematology Vol. 100; no. 5; pp. 502 - 506
• Main Authors: Ueda, Satoshi, Sakata, Naoki, Muramatsu, Hideki, Sakaguchi, Hirotoshi, Wang, Xinan, Xu, Yinyan, Kojima, Seiji, Yamaguchi, Toshihiro, Higa, Takeshi, Takemura, Tsukasa
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.11.2014; Springer; Springer Nature B.V
• Subjects: Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Biological and medical sciences; Blast Crisis; Bone Marrow - pathology; Case Report; Child, Preschool; Hematologic and hematopoietic diseases; Hematology; Hematopoietic Stem Cell Transplantation; Humans; Leukemia, Myeloid, Acute - diagnosis; Leukemia, Myelomonocytic, Juvenile - diagnosis; Leukemia, Myelomonocytic, Juvenile - genetics; Leukemia, Myelomonocytic, Juvenile - pathology; Leukemia, Myelomonocytic, Juvenile - therapy; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Medicine; Medicine & Public Health; Mutation; Oncology; Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics; Remission Induction; Transplantation, Homologous; Treatment Outcome; Acute erythroid leukemia; Juvenile myelomonocytic leukemia; Blast crisis; Hematopoietic stem cell transplantation; Erythroleukemia; Acute myelogenous leukemia; Hematology; Acute; Stem cell; Hematopoietic cell; Homograft; Malignant hemopathy; Blast transformation; Myeloproliferative syndrome; Chemotherapy; Treatment; Allogeneic hematopoietic stem cell transplantation; Cancer
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-014-1638-3

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.