Acute Megakaryoblastic leukemia in Down syndrome

被引：18
|
作者：
Hitzler, Johann K. [1 ]
机构：
[1] Hosp Sick Children, Div Hematol Oncol, Toronto, ON M5G 1X8, Canada
来源：
PEDIATRIC BLOOD & CANCER | 2007年 / 49卷 / 07期
关键词：
down syndrome; GATA; 1; mutations;
D O I：
10.1002/pbc.21353
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing acute leukemia. An estimated 10% of newborns with DS develop Transient Myeloproliferative Disease (TMD) or Transient Leukemia (TL), a clonal accumulation of megakaryoblasts that resolves spontaneously within months. Acute megakaryoblastic leukemia (AMKL) develops in approximately 20% of cases of TMD/TL by 4 years of age. Both the blasts of AMKL and TMD/TL in DS harbor somatic mutations of GATA1, an essential transcriptional regulator of megakaryocytic differentiation. The distinct phenotypes of megakaryoblastic leukemia in DS are a unique biological model of the incremental process of leukeimic transformation.
引用
收藏
页码：1066 / 1069
页数：4
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