慢性粒细胞性白血病FLT3基因及FLT3/ITD基因突变的检测及意义

背景与目的:大部分急性髓细胞性白血病(acutemyeloidleukemia,AML)患者出现FLT3基因异常表达,20%～30%AML患者会出现FLT3/ITD基因突变并与临床预后相关。本研究旨在了解慢性粒细胞白血病(chronicmyeloidleukemia,CML)患者FLT3基因及FLT3/ITD基因突变情况。方法:采用聚合酶链反应(polymerasechainreaction,PCR)检测53例CML慢性期和34例CML加速期或急变期患者DNA水平FLT3基因及FLT3/ITD基因突变。结果:53例CML慢性期患者3例(5.7%)出现FLT3基因阳性,34例加速期或急变期患者有19例(55.9%)出现FLT3基因阳性,CML加速期和急变期患者FLT3基因阳性率显著高于慢性期患者(P<0.001),87例CML患者,仅2例(2.3%)出现FLT3/ITD基因突变。结论:在CML患者中,FLT3基因表达主要见于加速期或急变期患者;CML很少发生FLT3/ITD基因突变;FLT3基因及FLT3/ITD基因突变阳性CML患者可能提示预后不佳,此方面研究尚需深入。

Detection of FLT3 gene and FLT3/ITD gene mutation in chronic myeloid leukemia and its significance

BACKGROUND &OBJECTIVE: Fms-like tyrosine kinase 3 (FLT3) gene abn ormal expression could be detected in most of acute myeloid leukemia (AML) patie nts, and 20%-30%of them have FLT3/ITD gene mutation which indicate poor progn osis. This study was to detect FLT3 gene expression, and FLT3/ITD gene mutation in chronic myeloid leukemia (CML) patients, and analyze their relationships with prognosis. METHODS: Polymerase chain reaction (PCR) was used to detect FLT3 gen e expression, and FLT3/ITD gene mutation in 53 CML patients of chronic phase, an d 34 CML patients of accelerated phase or blast crisis. RESULTS: FLT3 gene was d etected in 5.7%(3/53) CML patients of chronic phase, and in 55.9%(19/34) CML p atients of accelerated phase or blast crisis, the difference of FLT3 gene positi ve rate between these 2 groups was significant (P< 0.001). Only 2 of 87 CML pa tients (2.3%) were found with FLT3/ITD mutation. CONCLUSIONS: FTL3 gene express es mainly in CML patients of accelerated phase or blast crisis. FTL3/ITD gene mu tation was seldom involved in CML patients. The CML patients with FLT3 gene expr ession and FTL3/ITD gene mutation may have poor prognosis.