恶性血液病Flt3基因内部串联重复突变分析

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103例恶性血液病患者基因组DNA Flt₃-ITD突变。结果：44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（ALL）、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。

Analysis on Flt3 internal tandem duplication mutation in malignant hematopoietic diseases

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.