Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome

作者：Queiroz L B; Lima B D^*; Mazzeu J F; Camargo R; Cordoba M S; Magalhaes I Q; Martins de Sa C; Ferrari I

来源：Genetics and Molecular Research, 2013, 12(4): 4630-4638.

DOI：10.4238/2013.October.18.1

• Down syndrome
• Transient myeloproliferative disorder
• GATA1 mutation
• Myeloid leukemia in DS
• Minimal residual disease

It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of DS patients and the applicability of these mutations as a clonal marker to detect minimal residual disease, we screened 198 samples of 169 patients with DS for mutations in GATA1 exon 2 by direct sequencing. Novel mutations were detected in four of the 169 DS patients (2 with TMD and 2 with ML-DS). We examined spontaneous remission and response to therapy in TMD and ML-DS patients and concluded that these mutations can be used as stable markers in PCR analysis to monitor these events.

• 出版日期2013