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

被引：37

作者：

De Filippi, Paola ^{[2
]}

Zecca, Marco ^{[1
]}

Lisini, Daniela ^{[1
]}

Rosti, Vittorio ^{[3
]}

Cagioni, Claudia ^{[2
]}

Carlo-Stella, Carmelo ^{[4
]}

Radi, Orietta ^{[2
]}

Veggiotti, Pierangelo ^{[5
]}

Mastronuzzi, Angela ^{[1
]}

Acquaviva, Antonio ^{[6
]}

D'Ambrosio, Alfonso ^{[6
]}

Locatelli, Franco ^{[1
]}

Danesino, Cesare

机构：

[1] Univ Pavia, Policlin San Matteo, Fdn IRCCS, I-27100 Pavia, Italy

[2] Univ Pavia, Dept Human & Hereditary Pathol, I-27100 Pavia, Italy

[3] Policlin San Matteo, Fdn IRCCS, Area Trapiantol, I-27100 Pavia, Italy

[4] Ist Nazl Tumori, Fdn IRCCS, I-20133 Milan, Italy

[5] Univ Pavia, IRCCS C Mondino Fdn, Dept Child Neurol & Psychiat, Child Neuropsychiat Unit, I-27100 Pavia, Italy

[6] Univ Siena, Dept Paediat Obstet & Reprod Med, I-53100 Siena, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2009年 / 147卷 / 05期

关键词：

JMML; RAS; PTPN11; Noonan; MYELOID-LEUKEMIA; NOONAN-SYNDROME; RAS MUTATIONS; CELLS; CHILDHOOD;

D O I：

10.1111/j.1365-2141.2009.07894.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P>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.

引用

页码：706 / 709

页数：4

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