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目的研究骨髓异常增生综合征(MDS)患者FLT3基因表达水平及FLT3基因长度突变(FLT3-LM),以探讨其对MDS的临床意义。方法收集38例诊断明确的MDS及10例非恶性血液病患者骨髓并提取单个核细胞,应用基因组DNA聚合酶链反应(PCR)技术检测FLT3基因表达水平和FLT3-LM。结果38例MDS患者骨髓单个核细胞有11例检测到FLT3受体的表达,阳性率为28.9%,10例对照组均无FLT3受体的表达,两者差异有统计学意义(P<0.05)。11例FLT3受体表达阳性患者中有2例检测到FLT3-LM,阳性率为18.2%,10例正常对照均无FLT3-LM。两者差异有统计学意义(P<0.05)。FLT3/ITD(+)和FLT3/ITD(-)患者在年龄、外周血血红蛋白水平、血小板计数、白细胞计数、外周血原始细胞比例之间无相关性。FLT3/ITD(+)患者倾向于有较高的骨髓原始细胞比例(P=0.102)。结论MDS患者中存在FLT3-LM,FLT3-LM与疾病危重程度相关,可能有助于MDS诊断、预后判断和靶向治疗。
Objective To investigate the expression of FLT3 gene and FLT3 gene mutation (FLT3-LM) in patients with myelodysplastic syndrome (MDS) to explore its clinical significance in MDS. Methods The bone marrow samples of 38 patients with MDS and 10 patients with non-hematologic malignancies were collected and mononuclear cells were collected. FLT3 gene expression and FLT3-LM were detected by genomic DNA polymerase chain reaction (PCR). Results The expression of FLT3 receptor was detected in 11 cases of bone marrow mononuclear cells in 38 patients with MDS. The positive rate of FLT3 receptor was 28.9%. There was no expression of FLT3 receptor in 10 cases of control group (P <0.05) . FLT3-LM was detected in 2 out of 11 FLT3-positive patients, with a positive rate of 18.2%. None of the 10 normal controls had FLT3-LM. The difference was statistically significant (P <0.05). No correlation was found between FLT3 / ITD (+) and FLT3 / ITD (-) patients in terms of age, peripheral blood hemoglobin, platelet count, leukocyte count, and proportion of peripheral blood blast cells. Patients with FLT3 / ITD (+) tended to have a higher proportion of bone marrow blasts (P = 0.102). Conclusion The presence of FLT3-LM and FLT3-LM in patients with MDS is associated with the severity of the disease, which may be helpful for the diagnosis, prognosis and targeted therapy of MDS.