血液肿瘤患者FLT3/ITD基因突变的检测及临床意义

目的检测血液肿瘤患者FLT3/ITD基因突变,探讨其突变的临床意义。方法2001—2005年对南方医科大学南方医院血液科332例血液肿瘤患者,采用聚合酶链反应(PCR)方法检测FLT3/ITD基因突变。结果FLT3/ITD基因突变阳性率分别为急性髓性白血病(AML)22.3%(23/103)、慢性髓性白血病急变期(CML-BC)6.5%(2/31)、骨髓增生异常综合征(MDS)5.6%(2/36)和急性淋巴细胞白血病(ALL)2.6%(2/76)。而慢性髓性白血病慢性期(CML-CP)、慢性淋巴细胞白血病(CLL)、多发性骨髓瘤(MM)和非霍奇金淋巴瘤(NHL)均未发现FLT3/ITD基因突变。FLT3/ITD基因突变阳性AML患者外周血WBC计数及骨髓白血病细胞比例显著高于FLT3/ITD基因突变阴性AML患者(P<0.05),FLT3/ITD基因突变阳性AML患者完全缓解后18个月内累计复发率(63.6%)显著高于FLT3/ITD基因突变阴性AML组(27.7%)(P<0.05)。结论FLT3/ITD基因突变检测对血液肿瘤预后有一定意义;FLT3/ITD基因突变AML患者预后差。

The expression and clinical significance of FLT3/ITD gene mutation in hematologic malignancies

Objective To explore Fms-like tyrosine kinase 3(FLT3)gene internal-tandem duplications(ITD)mutation in hematologic malignancy.Methods FLT3/ITD gene mutation was analyzed by polymerase chain reaction(PCR)amplification on the DNA samples from 332 patients with hematologic malignancies at the Nanfang Hospital from 2001 to 2005.Results The mutation of FLT3/ITD gene was detected in 22.3% acute myeloid leukemia(AML)cases,in 6.5% chronic myeloid leukemia(CML)-blast crisis(BC)cases,in 5.6% myelodysplastic syndromes(MDS)cases and in 2.6% acute lymphoblastic leukemia(ALL)cases;FLT3/ITD gene mutation was not detected in CML-chronic phase(CP),multiple myeloma(MM),non-Hodgkin lymphoma(NHL)and chronic lymphocytic leukemia(CLL)cases.FLT3/ITD AML indicate high white blood cell count and high percentage of bone marrow blast cells and had a unfavourable cumulative relapse rates.Conclusion AML patients with FLT3/ITD have a poor prognosis.Detection of FLT3/ITD gene mutation may be valuable in hematologic malignancy.