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 | |
| Publication status | Published - Dec 2009 |
Fingerprint
Keywords
- JMML
- Noonan
- PTPN11
- RAS
ASJC Scopus subject areas
- Hematology
Cite this
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
}
TY - JOUR
T1 - Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia
AU - De Filippi, Paola
AU - Zecca, Marco
AU - Lisini, Daniela
AU - Rosti, Vittorio
AU - Cagioni, Claudia
AU - Carlo-Stella, Carmelo
AU - Radi, Orietta
AU - Veggiotti, Pierangelo
AU - Mastronuzzi, Angela
AU - Acquaviva, Antonio
AU - D'Ambrosio, Alfonso
AU - Locatelli, Franco
AU - Danesino, Cesare
PY - 2009/12
Y1 - 2009/12
N2 - 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.
AB - 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.
KW - JMML
KW - Noonan
KW - PTPN11
KW - RAS
UR - http://www.scopus.com/inward/record.url?scp=70449364013&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70449364013&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2141.2009.07894.x
DO - 10.1111/j.1365-2141.2009.07894.x
M3 - Article
C2 - 19775298
AN - SCOPUS:70449364013
VL - 147
SP - 706
EP - 709
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 5
ER -