【摘要】 目的 观察慢性粒细胞性白血病(chronic myelogenous leukemia, CML)急变(blast crisis,BC)患者罕见染色体异常的临床及实验室特点。 方法 2010年2月1例患者因咳嗽和高热来我院就诊,采用常规方法检查患者骨髓细胞,应用R显带技术和荧光原位杂交技术分析骨髓细胞核型。 结果 患者具有CML-BC的典型临床及实验室特点,同时核型出现不典型t(1;9;22)合并亚二倍体罕见核型异常,临床表现病情进展快,对伊马替尼疗效差,生存期短。 结论 慢性粒细胞性白血病患者在急变期出现伴不典型Ph染色体的亚二倍体复杂核型为高危核型,此类患者可能存在对伊马替尼的耐药,如能取得血液学缓解应尽早接受异基因骨髓造血干细胞移植,争取获得长期疗效。【Abstract】 Objective To report a case of chronic myelogenous leukemia (CML) blastic transformation into acute myelogenous leukemia with rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities, and to analyze its clinical and laboratory characteristics. Methods A 47-year-old man was referred to our hospital due to cough and high fever in February 2010. We collected and analyzed the patient’s clinical materials, and performed chromosomal karyotype analysis with R-banding and fluorescence in situ hybridization (FISH). Results The patient demonstrated typical clinical and laboratory characteristics of blastic crisis of chronic myelogenous leukemia (CML-BC) and displayed rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities. Meanwhile, the disease was rapidly progressive, with poor response to imatinib and had short overall survival. Conclusions CML-BC patients with hypodiploidy complex chromosome abnormalities are in high risk. They may show drug-resistance to imatinib. Thus, for this type of patients, once the hematological remission is achieved, allogeneic stem cell transplant should be performed as soon as possible to get better opportunity for long-term survival.
ObjectiveTo detect the expression of Liver X receptors (LXRs), protein phosphatase 1A (PPM1A), transforming growth factor-β1 (TGF-β1) and Smad2 in peripheral blood of bronchial asthma patients, and to explore whether LXRs and PPM1A are related to airway remodeling.MethodsSubjects were divided into healthy control group, mild and moderate asthma group and severe asthma group, with 30 subjects each. Lung function and high-resolution computed tomography examination were performed on patients with bronchial asthma to define airway remodeling. Peripheral blood was extracted and the serum levels of LXRα, LXRβ, PPM1A, TGF-β1 and Smad2 were detected after centrifugation. Then the data were analyzed.ResultsThe airway remodeling level of the mild and moderate asthma group was significantly higher than that of the control group. The airway remodeling level of the severe asthma group was significantly higher than that of the mild and moderate asthma group. Serum LXRα, LXRβ in asthma group were higher than those in the control group. The levels of LXRα and LXRβ in severe asthma were higher than those in mild and moderate asthma group. There was no significant correlation between LXRs and airway remodeling. The PPM1A level in mild and moderate asthma group was lower than that in the control group. The levels of PPM1A in severe asthma were lower than that in mild and moderate asthma group. PPM1A level was negatively correlated with airway remodeling.ConclusionsThe level of PPM1A in asthma patients is lower than that in healthy subjects, and is negatively correlated with the degree of airway remodeling. Serum LXRs in asthmatic patients are higher than that in healthy subjects, but LXRs are not significantly correlated with airway remodeling.