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

doi:10.1002/pbc.23401

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 journal › Article › peer-review

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.

Original language	English
Pages (from-to)	580-582
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	59
Issue number	3
DOIs	https://doi.org/10.1002/pbc.23401
Publication status	Published - Sep 2012

Keywords

JMML
Leukemia pathogenesis
NRAS
Somatic mutation

ASJC Scopus subject areas

Oncology
Pediatrics, Perinatology, and Child Health
Hematology

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

In: Pediatric Blood and Cancer, Vol. 59, No. 3, 09.2012, p. 580-582.

Research output: Contribution to journal › Article › peer-review

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. / The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. In: Pediatric Blood and Cancer. 2012 ; Vol. 59, No. 3. pp. 580-582.

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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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AU - Pasquali, Francesco

AU - Rosti, Vittorio

AU - Carlo-Stella, Carmelo

AU - Zavras, Niki

AU - Cagioni, Claudia

AU - Zuffardi, Orsetta

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AU - Danesino, Cesare

AU - Locatelli, Franco

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