【摘要】 目的 觀察t(4; 22)致血小板源性生長因子受體α（the platelet-derived growth factor receptor alpha， PDGFRA）異常的髓系/淋巴系腫瘤的臨床特點。 方法 對2010年6月收治的1例t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤患者的臨床資料進行回顧性分析，并對其臨床特點、實驗室檢查、診斷、治療進行總結。 結果 該疾病臨床表現及骨髓涂片檢查類似慢性粒細胞白血病（chronic myelogenous leukemia，CML），但無CML特征性Ph染色體和（或）BCR/ABL融合基因，而細胞遺傳學檢測顯示4號與22號染色體易位，診斷為t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤。采用羥基脲及干擾素治療后可獲得完全血液學緩解。 結論 t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤是一類罕見疾病，臨床表現與CML相似，t(4; 22)及BCR/PDGFRA融合基因陽性是診斷該類疾病的關鍵。【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 探討血栓性血小板減少性紫癜（thrombotic thrombocytopenic purpura，TTP）患者血管內皮損傷程度，以及不同類型TTP之間血管內皮損傷差異性。 方法 納入2005年4月-2010年12月特發性TTP患者17例（A組），繼發性TTP患者15例（B組），骨髓移植相關TTP患者2例（C組），疑似TTP患者11例（D組），共45例；另選取健康體檢志愿者為對照組10例（E組）。采用雙夾心酶聯免疫吸附試驗測定血管性血友病因子前肽（von Willebrand factor propeptide，vWFpp）水平。 結果 vWFpp水平為其與正常混合血漿的比值， A組為2.2，B組為2.34，C組為2.795，D組為1.72，E組為1.08。A、B、C、D組患者vWFpp水平與E組比較，差異有統計學意義（Plt;0.05），A、B、C、D組間比較，差異無統計學意義（Pgt;0.05）。 結論 TTP患者vWFpp水平明顯增高，提示血管內皮損傷明顯，但vWFpp水平不能用于鑒別TTP類型。【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 研究以萬珂為主化學療法方案提高多發性骨髓瘤初發患者自體外周血造血干細胞采集的作用。 方法 回顧性分析2006年1月-2010年11月4例初發多發性骨髓瘤患者在萬珂治療后自體外周血造血干細胞采集的臨床資料。療效判定依據國際骨髓瘤工作組2006年療效判斷標準。 結果 經過萬珂為主化學療法方案治療3~6個療程（平均4個療程）后，3例獲得CR及以上療效，均順利實施了外周血造血干細胞采集；3例采集次數僅1次，1例為2次；平均獲得CD34+細胞8.43×106/kg，完全達到采集要求。 結論 萬珂為主化學療法方案起效快、療效好，可以提高初發多發性骨髓瘤患者的干細胞采集率。【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.