恶性血液病Flt_3基因内部串联重复突变分析

Analysis on Flt_3 internal tandem duplication mutation in malignant hematopoietic diseases

目的 :研究 Flt3- ITD在恶性血液病中的突变及分布情况。方法 :采用 PCR法检测 10 3例恶性血液病患者基因组 DNA Flt3- ITD突变。结果 :4 4例初治急性髓细胞白血病 (AML )患者中 8例发生 Flt3- ITD突变 ,突变率为 18. 2 % ,以 M1型最高 ;急性淋巴细胞白血病 (AL L )、骨髓增生异常综合征 (MDS)、多发性骨髓瘤(MM)、非何杰淋巴瘤 (NHL )及慢性髓细胞白血病 (CML )均未检出 Flt3- ITD突变。结论 :Flt3- ITD可作为 AML重要分子标志。

Objective To investigate Flt 3 tandem duplication mutation (ITD) and its distribution in different malignant hematopoietic diseases. Methods PCR was used to detect the Flt 3-ITD mutation in blast cell of bone marrow from 103 patients with malignant hematopoietic disease. Results Flt 3-ITD mutations were found in 18.2% (8/44)of the patients with primary acute myeloid leukemia (AML), more Flt 3 aberrations were found in patients with FAB M1. Flt 3-ITD mutations were not found in patients with acute lymphoid leukemia (ALL), myelodysplastic syndrome(MDS), multiple myeloma(MM), non-Hodgkin′s lymphoma(NHL), and chronic myeloid leukemia (CML). Conclusion Flt 3-ITD can be a important molecular marker for AML.