title: The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
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.
authors.affiliation: Genetica Medica, Università degli Studi di Pavia, Pavia, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: De Filippi
authors.forename: Marco
authors.initials: M
authors.lastname: Zecca
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Daniela
authors.initials: D
authors.lastname: Lisini
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasquali
authors.forename: Vittorio
authors.initials: V
authors.lastname: Rosti
authors.forename: Carmelo
authors.initials: C
authors.lastname: Carlo-Stella
authors.forename: Niki
authors.initials: N
authors.lastname: Zavras
authors.forename: Claudia
authors.initials: C
authors.lastname: Cagioni
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Daria
authors.initials: D
authors.lastname: Pagliara
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
mesh_terms: D011905:Genes, ras; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics*; D008297:Male; D009154:Mutation; D014411:Neoplastic Stem Cells / Q000378:metabolism