Abstract
Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long-term culture initiating cells. However, only the former was consistently found in more mature hematopoietic cells, suggesting that cancer transformation may lead to the loss of a mutation. This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis.
Original language | English |
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Pages (from-to) | 580-582 |
Number of pages | 3 |
Journal | Pediatric Blood and Cancer |
Volume | 59 |
Issue number | 3 |
DOIs | |
Publication status | Published - Sep 2012 |
Keywords
- JMML
- Leukemia pathogenesis
- NRAS
- Somatic mutation
ASJC Scopus subject areas
- Oncology
- Pediatrics, Perinatology, and Child Health
- Hematology