Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia

被引：77

作者：

Alford, Kate A. ^{[1
]}

Reinhardt, Katarina

Garnett, Catherine ^{[1
]}

Norton, Alice ^{[1
]}

Boehmer, Katarina

von Neuhoff, Christine

Kolenova, Alexandra ^{[3
,4
]}

Marchi, Emanuele ^{[1
]}

Klusmann, Jan-Henning

Roberts, Irene ^{[5
]}

Hasle, Henrik ^{[6
]}

Reinhardt, Dirk ^{[2
]}

Vyas, Paresh ^{[1
]}

机构：

[1] Univ Oxford, Mol Haematol Unit, Weatherall Inst Mol Med, John Radcliffe Hosp, Oxford OX3 9DS, England

[2] Hannover Med Sch, Dept Pediat Hematol Oncol, D-30625 Hannover, Germany

[3] Comenius Univ, Sch Med, Dept Pediat Oncol, Bratislava, Slovakia

[4] Univ Childrens Hosp, Bratislava, Slovakia

[5] Univ London Imperial Coll Sci Technol & Med, Dept Haematol, London, England

[6] Aarhus Univ Hosp, Dept Pediat, Nord Soc Pediat Hematol & Oncol, Skejby, Denmark

来源：

BLOOD | 2011年 / 118卷 / 08期

基金：

英国医学研究理事会;

关键词：

MEGAKARYOBLASTIC LEUKEMIA; ACQUIRED MUTATIONS; LEUKEMOGENESIS; HEMATOPOIESIS; MUTAGENESIS; CHILDREN;

D O I：

10.1182/blood-2011-03-342774

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show that simple techniques detect GATA1 mutations in the largest series of TMD (n = 134; 88%) and ML-DS (n = 103; 85%) cases tested. Furthermore, no significant difference in the mutational spectrum between the 2 disorders was seen. Thus, the type of GATA1 sequence mutation is not a reliable tool and is not prognostic of which patients with TMD are probable to develop ML-DS. (Blood. 2011;118(8):2222-2238)

引用

页码：2222 / 2238

页数：17

共 18 条

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