伴有染色体异常白血病患者FLT3基因突变检测临床意义.docVIP

伴有染色体异常白血病患者FLT3基因突变检测临床意义 　【摘要】 本研究旨在探讨伴有染色体异常急性髓系白血病患者FLT3跨膜区内部串联重复突变检测的临床意义。用R显带染色体核型技术分析125例AML患者的细胞核型；采用PCR联合序列测定检测伴有或不伴有染色体异常的AML患者FLT3基因突变情况。结果表明： 125例患者中46例证实存在不同类型染色体异常，总检出率为36.8%，各亚型检出率分别为M0 57.14%、M1 55.56%、M2 38.71%、M3 50.0%、M4 50.0%、M5 30.77%、M6/M7 10.0%和M7 18.75%。染色体异常的类型以t(16,21)最多，为9例，占19.78%；其次分别为t(8,21)7例，占15.22%；t(4,11)6例，占13.04%。同时发现了3例国内较少见的t(6,9)染色体异常，占6.52%。无染色体异常79例患者中56例FLT3基因表达阳性，阳性率为70.89%。46例伴有染色体异常患者中31例FLT3基因表达阳性，阳性率为67.39%，两者无显著性差异(p﹥0.05)。在两组患者中FLT3/ITD基因突变阳性率分别为11.39%和24.09%，两者有显著性差异（plt;0.05）。临床资料显示，伴有和不伴有染色体异常的两组患者外周血白细胞计数、Hb计数、骨髓中白细胞比例均无显著性差异(p﹥0.05)；伴有或不伴有染色体异常FLT3/ ITD阳性组绝大多数短期内死亡，两组间死亡率无显著性差异(p﹥0.05)，但伴有染色体异常FLT3/ ITD阳性组患者的生存期更短，两者有显著性差异（plt;0.05）。结论：同时伴有染色体异常和FLT3/ITD突变患者预后较差，FLT3/ITD突变可以作为染色体异常AML患者预后不良的重要标志。 【关键词】 急性髓性白血病 Clinical Significance of FLT3 Internal Tandem Duplication in Acute Myeloid Leukemia with Chromosome Abnormality Abstract This study was to explore the clinical significance of FLT3 internal tandem duplication (FLT3/ITD) in acute myeloid leukemia (AML) with chromosome abnormality. Karyotypes in 125 AML patients were analyzed by R banding technique. Using genomic PCR and sequencing, FLT3/ITD mutation in AML patients with or without chromosome abnormity were examined. The results indicated that chromosome abnormality with various types was found in 46 out of 125 samples, the positive rate was 36.8%. The positive rate in different chromosome subtypes included M0 57.14%, M1 55.56%, M2 38.71%,M3 50.0%,M4 50.0%,M5 30.77%,M6/M7 10.0% and M7 18.75% respectively. In various chromosome abnormality types, t(16,21) occurred in 9 samples with highest rate 19.78%, and the others were t(8,21) in 7 samples, t(4,11) in 6 samples with the occurrence rate 15.22%, 13.04% respectively. Besides, t(6,9) was detected in 3 samples which was seldom found domestically, the positive rate was 6.52%. In 79 samples without chromosome abnormality, FLT3 gene expression was detected in 56 samples, the positive rate was 70.89%. In 46 sampl