Article
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
Pediatric blood & cancer - 1 Sept 2012
De Filippi Paola, Zecca Marco, Novara Francesca, Lisini Daniela, Maserati Emanuela, Pasquali Francesco, Rosti Vittorio, Carlo-Stella Carmelo, Zavras Niki, Cagioni Claudia, Zuffardi Orsetta, Pagliara Daria, Danesino Cesare, Locatelli Franco
Abstract excerpt
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...
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