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. © 2011 Wiley Periodicals, Inc.

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

MASERATI, EMANUELA;PASQUALI, FRANCESCO;LOCATELLI, FRANCO
2012-01-01

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. © 2011 Wiley Periodicals, Inc.
2012
JMML; Leukemia pathogenesis; NRAS; Somatic mutation; Humans; Infant; Leukemia, Myelomonocytic, Juvenile; Male; Neoplastic Stem Cells; Genes, ras; Mutation; Oncology; Pediatrics, Perinatology and Child Health; Hematology
De Filippi, Paola; Zecca, Marco; Novara, Francesca; Lisini, Daniela; Maserati, Emanuela; Pasquali, Francesco; Rosti, Vittorio; Carlo Stella, Carmelo; ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11383/2063037
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