骨髓形态与遗传检测对骨髓增生异常综合征与巨细胞性贫血鉴别的意义

Role of bone marrow morphology and genetics testing in differential diagnosis of myelodysplastic syndrome and megaloblastic anemia

目的分析探讨骨髓增生异常综合征(myelodysplastic syndrome,MDS)伴低原始细胞计数患者与巨幼细胞性贫血(megaloblastic anemia,MA)患者鉴别诊断中形态及遗传检测的差异。方法对2011年1月-2013年6月在我院确诊的33例伴低原始细胞计数的MDS患者及19例MA患者进行临床参数、形态检测分析(骨髓原始细胞计数及病态造血)及遗传检测分析(染色体及基因检测)。结果伴低原始细胞计数的MDS组较MA组巨核系病态造血更易见(P=0.031),伴低原始细胞计数的MDS患者中细胞遗传学异常发生率与分子遗传学异常发生率均明显高于MA患者(P=0.000,P=0.000)。结论联合形态及遗传检测可准确鉴别MDS与MA。

Objective To study the role of bone marrow morphology and genetics testing in differential diagnosis of myelodysplastic syndrome （MDS） with a low blast count and megaloblastic anemia （MA）. Methods Clinical data （including bone marrow morphology and genetic status） about 33 MDS patients with a low blast count and 19 MA patients admitted to our hospital from January 2011 to June 2013 were analyzed. Results The incidence of dyshaematopoiesis, abnormal cellular and molecular genetics testing was significantly higher in MDS patients with a low blast count than in MA patients （P=0.031, P=0.000, P=0.000）. Conclusion Bone marrow morphology and genetics can accurately diagnose MDS from MA.