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.
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia / P. De Filippi, M. Zecca, F. Novara, D. Lisini, E. Maserati, F. Pasquali, V. Rosti, C. Carlo Stella, N. Zavras, C. Cagioni, O. Zuffardi, D. Pagliara, C. Danesino, F. Locatelli. - In: PEDIATRIC BLOOD & CANCER. - ISSN 1545-5009. - 59:3(2012 Dec), pp. 580-582.
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia
C. Carlo Stella;
2012
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.
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