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.
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia / Filippi, P. D.; Zecca, M.; Lisini, D.; Rosti, V.; Cagioni, C.; Carlo Stella, C.; Radi, O.; Veggiotti, P.; Mastronuzzi, Angela; Acquaviva, A.; D'Ambrosio, A.; Locatelli, F.; Danesino, C.. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 147:(2009), pp. 706-709. [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.
MASTRONUZZI, ANGELA;F. Locatelli;
2009
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
