| ObjectiveFLT3 mutation occured in internal tandem duplication (FLT3/ITD) of transmembrane region was identified in FLT3 gene, which was happened in Acute Myeloid Leukaemia (AML) most frequently, and correlated with prognosis. The FLT3/ITD mutation occured in children leukemia has not been reported domestically until now. This study aim is to explore the relationship between FLT3/ITD mutation and children leukemia.Methods423 cases of sample, including 187 cases of acute myeloid leukaemia (AML),167 cases of acute lymphoblastic leukaemias (ALL),30 cases juvenile chronic myelogenous leukaemias (JCML) and 39 cases myelo dysplastic syndrome (MDS) were examined by genomic PCR and sequencing.ResultsFLT3 gene were detected in 142 cases of 187 cases AML, positive volue was 75.95%. In them,26 samples, including MO 3 cases, M1 2 cases, M39 cases, M49 cases, and M55 cases, had FLT3/ITD mutation, mutation rate was 42.86%,6.25%,17.07%, and 42.86%, respectively. Besides,106 caes positive expression was detected in 167 cases ALL, the positive rate is 63.47%. In them, FLT3/ITD mutation was found in 2 cases, the mutation rate is 1.2%. No FLT3/ITD was found in 39 MDSs and 17 JCMLs. DNA sequencing and Blast revealed that alignment.ITDs exist in all samples within exon 11, with various duplication region and length (24-95 bp). The life span of the 26 AML patients with Flt3/ITD was only 10.1 year s (0.5-13 yeas) in average, which is significant shorter than that of patients without FLT3/ITD. The neutrophil ratio of FLT3/ITD positive cases in peripheral blood is no significant difference in FLT3/ITD negative patients. chromosome abnormity was happened in 6 AML samples with FLT3/ITD, they are t(11;12)(p15;q13),inv16(q21;q23), t(6;9)(p23;q23) by Chromosome karyotype analysis.CONCLUSIONSFLT3/ITD mutations can be detected in AML, seldom in ALL, not in MDS and JCML. FLT3 mutations were involved in AML and correlated with AML onset and progress. FLT3/ITD mutation is a significant marker in AML prognosis.
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