【摘要】 目的 观察t(4; 22)致血小板源性生长因子受体α（the platelet-derived growth factor receptor alpha， PDGFRA）异常的髓系/淋巴系肿瘤的临床特点。 方法 对2010年6月收治的1例t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤患者的临床资料进行回顾性分析，并对其临床特点、实验室检查、诊断、治疗进行总结。 结果 该疾病临床表现及骨髓涂片检查类似慢性粒细胞白血病（chronic myelogenous leukemia，CML），但无CML特征性Ph染色体和（或）BCR/ABL融合基因，而细胞遗传学检测显示4号与22号染色体易位，诊断为t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤。采用羟基脲及干扰素治疗后可获得完全血液学缓解。 结论 t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤是一类罕见疾病，临床表现与CML相似，t(4; 22)及BCR/PDGFRA融合基因阳性是诊断该类疾病的关键。【Abstract】 Objective To observe the clinical features of myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of the platelet-derived growth factor receptor alpha (PDGFRA) to increase the identification and reduce the misdiagnosis. Methods The clinical data of one patient with myeloid and lymphoid neoplasm with t (4; 22) induced abnormalities of PDGFRA diagnosed in June 2010 was retrospectively analyzed. We summarized the clinical features, morphology, genetics, diagnostic criteria and therapy about this kind of disease. Results The patient had a clinical manifestation and bone marrow smear result of chronic myelogenous leukemia (CML). But the result of genetic analysis found no translocation of chromosomes 9 and 22 juxtaposing BCR and ABL gens. Cytogenetic analysis showed an abnormal karyotype with rearrangement of chromosomes 4 and 22. So the patient was diagnosed myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of PDGFRA. After receiving interferon and hydroxyurea, the patient achieved complete hematologic remission. Conclusion Myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of PDGFRA is a rare kind of disease. Its clinical feature is similar to that of CML. The key of diagnosis is genetics.
【摘要】 目的 探讨血栓性血小板减少性紫癜（thrombotic thrombocytopenic purpura，TTP）患者血管内皮损伤程度，以及不同类型TTP之间血管内皮损伤差异性。 方法 纳入2005年4月-2010年12月特发性TTP患者17例（A组），继发性TTP患者15例（B组），骨髓移植相关TTP患者2例（C组），疑似TTP患者11例（D组），共45例；另选取健康体检志愿者为对照组10例（E组）。采用双夹心酶联免疫吸附试验测定血管性血友病因子前肽（von Willebrand factor propeptide，vWFpp）水平。 结果 vWFpp水平为其与正常混合血浆的比值， A组为2.2，B组为2.34，C组为2.795，D组为1.72，E组为1.08。A、B、C、D组患者vWFpp水平与E组比较，差异有统计学意义（Plt;0.05），A、B、C、D组间比较，差异无统计学意义（Pgt;0.05）。 结论 TTP患者vWFpp水平明显增高，提示血管内皮损伤明显，但vWFpp水平不能用于鉴别TTP类型。【Abstract】 Objective To explore the severity of endothelium injury in patients with thrombotic thrombocytopenic purpura (TTP) and the differences among different subtypes of TTP. Methods The clinical data of 45 patients with TTP diagnosed between April 2005 and December 2010 were retrospectively analyzed. von Willebrand factor propeptide (vWFpp) was measured by sandwich ELISA in 17 patients with idiopathic TTP (group A), 15 patients with secondary TTP (group B), 2 patients with transplantation associated TTP (group C), 11 patients with suspected TTP (group D) and 10 control healthy volunteers (group E). Results Median times of vWFpp of the five groups were 2.2, 2.34, 2.795, 1.72, and 1.08 respectively. Plasma vWFpp levels of the first four groups didn′t differ much between each other (Plt;0.05), but the differences were significant compared with the data in the control group (Pgt;0.05). Conclusions Significantly increased vWFpp level in patients with TTP indicates obvious endothelium injury. Nevertheless, it could not be used to differentiate TTP types.
【摘要】 目的 研究以万珂为主化学疗法方案提高多发性骨髓瘤初发患者自体外周血造血干细胞采集的作用。 方法 回顾性分析2006年1月-2010年11月4例初发多发性骨髓瘤患者在万珂治疗后自体外周血造血干细胞采集的临床资料。疗效判定依据国际骨髓瘤工作组2006年疗效判断标准。 结果 经过万珂为主化学疗法方案治疗3~6个疗程（平均4个疗程）后，3例获得CR及以上疗效，均顺利实施了外周血造血干细胞采集；3例采集次数仅1次，1例为2次；平均获得CD34+细胞8.43×106/kg，完全达到采集要求。 结论 万珂为主化学疗法方案起效快、疗效好，可以提高初发多发性骨髓瘤患者的干细胞采集率。【Abstract】 Objective To explore the improvement of autologous stem cells collection in patients with newly-diagnosed multiple myeloma after Velcade-based chemotherapy. Methods The clinical data of four patients with multiple myeloma who underwent Velcade-based chemotherapy between January 2006 and November 2010 were retrospectively analyzed. The therapeutic effect was observed. Results After 3-6 courses (mean 4 courses) of Velcade-based chemotherapy, 3 patients obtained complete remission (CR) and above response, and the sufficient peripheral blood hematopoietic stem cells were collected successfully. The peripheral blood hematopoietic stem cells were collected once in three patients and twice in one patient. Sufficient number of hematopoietic stem cells (mean CD34 positive-cell 8.43×106/kg) were collected which fully met the collection requirements. Conclusion Velcade-based chemotherapy has advantages of fast action and good therapeutic effect, which can improve the collection of autologous stem cells in patients with newly-diagnosed multiple myeloma.