Premium
Diagnosis and treatment of juvenile myelomonocytic leukemia
Author(s) -
Sakashita Kazuo,
Matsuda Kazuyuki,
Koike Kenichi
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13068
Subject(s) - juvenile myelomonocytic leukemia , medicine , neuroblastoma ras viral oncogene homolog , ptpn11 , hematopoietic stem cell transplantation , oncology , kras , germline mutation , myeloid , cancer research , transplantation , immunology , haematopoiesis , stem cell , cancer , mutation , genetics , colorectal cancer , gene , biology
Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder that occurs during infancy and early childhood; this disorder is characterized by hypersensitivity of the myeloid progenitor cells to granulocyte–macrophage colony‐stimulating factor in vitro . JMML usually involves somatic and/or germline mutations in the genes of the RAS pathway, including PTPN11 , NRAS , KRAS , NF1 , and CBL , in the leukemic cells. Almost all patients with JMML experience an aggressive clinical course, and hematopoietic stem cell transplantation (HSCT) is the only curative treatment. A certain proportion of patients with somatic NRAS and germline mutations in CBL , however, have spontaneous resolution. A suitable treatment after diagnosis and conditioning regimen prior to HSCT are yet to be determined, but several clinical trials have been initiated throughout the world to develop suitable pre‐ or post‐allogeneic HSCT treatments and new targeted therapies that are less toxic, to improve patient outcome.