The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia

Paola De Filippi, Marco Zecca, Francesca Novara, Daniela Lisini, Emanuela Maserati, Francesco Pasquali, Vittorio Rosti, Carmelo Carlo-Stella, Niki Zavras, Claudia Cagioni, Orsetta Zuffardi, Daria Pagliara, Cesare Danesino, Franco Locatelli

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)580-582
Number of pages3
JournalPediatric Blood and Cancer
Issue number3
Publication statusPublished - Sep 2012


  • JMML
  • Leukemia pathogenesis
  • NRAS
  • Somatic mutation

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology


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