摘要
为了探讨血小板明显波动的RARS与RARS-T在临床表现、分子生物学特征及预后转归的相关意义,采用骨髓细胞涂片和骨髓活检观察细胞形态学改变,用流式细胞术检测细胞免疫学特征,染色体分析检测细胞遗传学改变,应用AS-PCR、基因测序检测JAK2V617F、MPLW515L点突变。结果表明:本例患者确诊为RARS,多次发生血栓相关并发症,血钾水平与血小板计数呈正相关。血小板计数增高时,外周血及骨髓涂片中发现巨大畸形血小板,血小板大簇易见;骨髓活检示巨核细胞数量显著增多;JAK2V617F、MPLW515L基因突变均阴性。结论:RARS可向RARS-T转化,伴骨髓巨核细胞增殖、巨大畸形血小板、JAK2V617F可能为阴性。病程中出现巨大血小板、血小板计数明显波动时同样要高度重视相关血栓事件的防治,监测相关基因突变。
The objective of this study was to explore the differences between refractory anemia with tinged sideroblast （RARS） and RARS associated with marked thrombocytosis （RARS-T） in the clinical, biological features and prognosis. The morphological changes of cells were observed by bone marrow smear and biopsy. Immunologic phenotype was analyzed by flow cytometry, and chromosome was examined by conventional chromosomal analysis. JAK2 V617F and MPL WS15L mutations were screened by allele-specific polymerase chain reaction （AS-PCR） and sequence analysis. The results showed that this case was clinically diagnosed as RARS with thrombophilia, the level of serum potassium was positively related with platelet counts. When platelets increased, the clusters of atypical giant platelets and megakaryocytes were observed in peripheral blood and bone marrow examined by bone marrow smear and bone marrow biopsy respectively, JAK2 V617F and MPL W515L mutations were negative. It is concluded that RARS may transform into RARS-T accompanied with megakaryocyte proliferation, large atypical platelets and negative JAK2 V617F. Preventing thrombophilia and monitoring relative gene mutations are necessary when atypical giant platelets and fluctuant platelet counts occured in process of RARS with tendency to RARS-T.
出处
《中国实验血液学杂志》
CAS
CSCD
2010年第4期1036-1041,共6页
Journal of Experimental Hematology
基金
江苏省卫生厅"科教兴卫工程"医学重点人才课题(编号RC2007068)
