Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy

J Hum Genet. 2016 Jun;61(6):523-6. doi: 10.1038/jhg.2016.8. Epub 2016 Feb 25.

Abstract

Juvenile myelomonocytic leukemia (JMML) appears to be a life-threatening disease and showed poor prognosis even after hematopoietic stem cell transplantation (HSCT) because of high relapse rate. On the other hand, recent molecular analysis revealed the heterogeneity of JMML. Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder. We think that some JMML patients with CBL mutation might show the good prognosis in later life after remission of JMML.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Germ-Line Mutation*
  • Humans
  • Infant
  • Leukemia, Myelomonocytic, Juvenile / diagnosis*
  • Leukemia, Myelomonocytic, Juvenile / drug therapy
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Loss of Heterozygosity
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins c-cbl / genetics*
  • Treatment Outcome
  • Uniparental Disomy

Substances

  • Proto-Oncogene Proteins c-cbl