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

作者：Alford Kate A; Reinhardt Katarina; Garnett Catherine; Norton Alice; Boehmer Katarina; von Neuhoff Christine; Kolenova Alexandra; Marchi Emanuele; Klusmann Jan Henning; Roberts Irene; Hasle Henrik; Reinhardt Dirk; Vyas Paresh^*

来源：Blood, 2011, 118(8): 2222-2238.

DOI：10.1182/blood-2011-03-342774

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)

• 出版日期2011-8-25