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Germ‐line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia
Author(s) -
De Filippi Paola,
Zecca Marco,
Lisini Daniela,
Rosti Vittorio,
Cagioni Claudia,
CarloStella Carmelo,
Radi Orietta,
Veggiotti Pierangelo,
Mastronuzzi Angela,
Acquaviva Antonio,
D’Ambrosio Alfonso,
Locatelli Franco,
Danesino Cesare
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07894.x
Subject(s) - juvenile myelomonocytic leukemia , neuroblastoma ras viral oncogene homolog , mutation , exon , acute myelomonocytic leukemia , immunology , medicine , myelodysplastic syndromes , cancer research , pathology , biology , gene , genetics , leukemia , bone marrow , stem cell , haematopoiesis , kras
Summary 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.