RAS pathway mutations in Juvenile myelomonocytic leukemia

被引:7
作者
Emanuel, Peter D. [1 ]
机构
[1] Univ Arkansas Med Sci, Winthrop P Rockefeller Canc Inst, Little Rock, AR 72202 USA
关键词
Juvenile myelomonocytic leukemia; RAS pathway; mutation;
D O I
10.1159/000140632
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Juvenile myelomonocytic leukemia (JMML) is a rare blood cell malignancy occurring in very young children. Yet, just as has been proven in other rare diseases, the study of JMML has provided us great insights into aberrant and dysregulated signal transduction through the Ras pathway, with the ultimate development of malignancy. Further, JMML investigations have also revealed to us much about the genetic predisposition to cancer. Copyright (c) 2008 S. Karger AG, Basel.
引用
收藏
页码:207 / 211
页数:5
相关论文
共 25 条
[21]   Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1 [J].
Side, LE ;
Emanuel, PD ;
Taylor, B ;
Franklin, J ;
Thompson, P ;
Castleberry, RP ;
Shannon, KM .
BLOOD, 1998, 92 (01) :267-272
[22]   Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome [J].
Tartaglia, M ;
Mehler, EL ;
Goldberg, R ;
Zampino, G ;
Brunner, HG ;
Kremer, H ;
van der Burgt, I ;
Crosby, AH ;
Ion, A ;
Jeffery, S ;
Kalidas, K ;
Patton, MA ;
Kucherlapati, RS ;
Gelb, BD .
NATURE GENETICS, 2001, 29 (04) :465-468
[23]   Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia [J].
Tartaglia, M ;
Niemeyer, CM ;
Fragale, A ;
Song, XL ;
Buechner, J ;
Jung, A ;
Hählen, K ;
Hasle, H ;
Licht, JD ;
Gelb, BD .
NATURE GENETICS, 2003, 34 (02) :148-150
[24]  
Vardiman J, 2001, PATHOLOGY GENETICS T, P55
[25]   Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain [J].
Zhu, Y ;
Romero, MI ;
Ghosh, P ;
Ye, ZY ;
Charnay, P ;
Rushing, EJ ;
Marth, JD ;
Parada, LF .
GENES & DEVELOPMENT, 2001, 15 (07) :859-876