Diagnosis and treatment of juvenile myelomonocytic leukemia

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• 作者：Kazuo Sakashita ; Kazuyuki Matsuda and Kenichi Koike
• 刊名：Pediatrics International
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：58
• 期：8
• 页码：681-690
• 全文大小：339K
• ISSN：1442-200X

文摘

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.