Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features


TÜFEKÇİ Ö., ÖREN H., Yenigurbuz F., Gozmen S., Karapinar T. H., Irken G.

TURKISH JOURNAL OF HEMATOLOGY, vol.32, no.2, pp.175-179, 2015 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.4274/tjh.2014.0034
  • Journal Name: TURKISH JOURNAL OF HEMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.175-179
  • Keywords: c-CBL mutation, Childhood, Juvenile myelomonocytic leukemia, NRAS mutation, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, PEDIATRIC MYELODYSPLASTIC SYNDROMES, COLONY-STIMULATING FACTOR, RAS MUTATIONS, MYELOID-LEUKEMIA, CBL MUTATIONS, CHILDHOOD, CLASSIFICATION, ABNORMALITIES, SURVIVAL
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

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.