title: Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features.
abstract: Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches.
authors: Özlem
authors: Ö
authors: Tüfekçi
authors: Dokuz Eylül University Faculty of Medicine, Department of Pediatric Hematology, İzmir, Turkey Phone: +90 232 412 61 41 E-mail: hale.oren@deu.edu.tr.
authors: Hale
authors: H
authors: Ören
authors: Fatma
authors: F
authors: Demir Yenigürbüz
authors: Salih
authors: S
authors: Gözmen
authors: Tuba Hilkay
authors: TH
authors: Karapınar
authors: Gülersu
authors: G
authors: İrken
mesh_terms: D000015:Abnormalities, Multiple; D064591:Allografts; D000964:Antimetabolites, Antineoplastic / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D015551:Autoimmunity; D003561:Cytarabine / Q000008:administration & dosage; D005091:Exons / Q000235:genetics; D005260:Female; D011905:Genes, ras; D018740:Genetic Heterogeneity; D018095:Germ-Line Mutation; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000628:therapy*; D008297:Male; D015122:Mercaptopurine / Q000008:administration & dosage / Q000627:therapeutic use; D020125:Mutation, Missense; D017354:Point Mutation; D011239:Prednisolone / Q000008:administration & dosage; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics*; D012074:Remission Induction
chemical_list: D000964:Antimetabolites, Antineoplastic; D003561:Cytarabine; D011239:Prednisolone; D015122:Mercaptopurine; D050721:Proto-Oncogene Proteins c-cbl