Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

Paola De Filippi; Marco Zecca; Daniela Lisini; Vittorio Rosti; Claudia Cagioni; Carmelo Carlo-Stella; Orietta Radi; Pierangelo Veggiotti; Angela Mastronuzzi; Antonio Acquaviva; Alfonso D'Ambrosio; Franco Locatelli; Cesare Danesino

doi:10.1111/j.1365-2141.2009.07894.x

Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

Paola De Filippi, Marco Zecca, Daniela Lisini, Vittorio Rosti, Claudia Cagioni, Carmelo Carlo-Stella, Orietta Radi, Pierangelo Veggiotti, Angela Mastronuzzi, Antonio Acquaviva, Alfonso D'Ambrosio, Franco Locatelli, Cesare Danesino

Research output: Contribution to journal › Article

Abstract

We report the case of a child with clinical and haematological features indicative of juvenile myelomonocytic leukaemia (JMML). The patient showed dysmorphic features: high forehead, bilateral epicanthal folds, long eyebrows, low nasal bridge and slightly low-set ears. A 38G>A (G13D) mutation in exon 1 of the NRAS gene was first demonstrated on peripheral blood cells, and then confirmed on granulocyte-macrophage colony-forming units. The same mutation was also found in buccal swab, hair bulbs, endothelial cells, skin fibroblasts. This case suggests for the first time that constitutional mutations of NRAS may be responsible for development of a myeloproliferative/myelodysplastic disorder in children.

Original language	English
Pages (from-to)	706-709
Number of pages	4
Journal	British Journal of Haematology
Volume	147
Issue number	5
DOIs	https://doi.org/10.1111/j.1365-2141.2009.07894.x
Publication status	Published - Dec 2009

Keywords

JMML
Noonan
PTPN11
RAS

ASJC Scopus subject areas

Hematology

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De Filippi, P., Zecca, M., Lisini, D., Rosti, V., Cagioni, C., Carlo-Stella, C., Radi, O., Veggiotti, P., Mastronuzzi, A., Acquaviva, A., D'Ambrosio, A., Locatelli, F., & Danesino, C. (2009). Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. British Journal of Haematology, 147(5), 706-709. https://doi.org/10.1111/j.1365-2141.2009.07894.x

Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. / De Filippi, Paola; Zecca, Marco ; Lisini, Daniela ; Rosti, Vittorio; Cagioni, Claudia; Carlo-Stella, Carmelo; Radi, Orietta; Veggiotti, Pierangelo; Mastronuzzi, Angela; Acquaviva, Antonio; D'Ambrosio, Alfonso; Locatelli, Franco ; Danesino, Cesare.

In: British Journal of Haematology, Vol. 147, No. 5, 12.2009, p. 706-709.

Research output: Contribution to journal › Article

De Filippi, P, Zecca, M , Lisini, D , Rosti, V, Cagioni, C, Carlo-Stella, C, Radi, O, Veggiotti, P, Mastronuzzi, A, Acquaviva, A, D'Ambrosio, A, Locatelli, F & Danesino, C 2009, 'Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia', British Journal of Haematology, vol. 147, no. 5, pp. 706-709. https://doi.org/10.1111/j.1365-2141.2009.07894.x

De Filippi, Paola ; Zecca, Marco ; Lisini, Daniela ; Rosti, Vittorio ; Cagioni, Claudia ; Carlo-Stella, Carmelo ; Radi, Orietta ; Veggiotti, Pierangelo ; Mastronuzzi, Angela ; Acquaviva, Antonio ; D'Ambrosio, Alfonso ; Locatelli, Franco ; Danesino, Cesare. / Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. In: British Journal of Haematology. 2009 ; Vol. 147, No. 5. pp. 706-709.

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