【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 分析異基因造血干細胞移植術（allogeneic hematopoietic stem cell transplantation，allo-HSCT）后出血性膀胱炎（hemorrhagic cystitis，HC）相關的危險因素，動態監測受者尿BK病毒（BK virus，BKV），分析其與HC發病的關系。 方法 回顧性分析2003年3月-2008年1月期間接受allo-HSCT的121例患者的資料，選擇8個臨床參數[年齡、性別、疾病類型、移植時疾病狀態、供者類型、預處理方案、急性移植物抗宿主病（acute graft-versus-host disease，aGVHD）、aGVHD的預防方案]作COX回歸分析。采用SYBR Green染料實時熒光定量聚合酶鏈反應法對2006年9月-2008年1月42例allo-HSCT患者尿BKV載量進行動態監測，分析被檢查者尿液BKV基因載量與HC發生以及嚴重程度的關系。 結果 121例患者中有24例發生HC，發病時間為術后0~63 d，中位時間40 d；持續時間7~150 d，中位時間22 d。Ⅱ~Ⅳ度aGVHD為HC的獨立危險因素[RR=8.304，95%CI（1.223，56.396），P=0.030]。allo-HSCT受者尿液中BKV檢出率為100%（42/42）。與正常人及未發生HC的allo-HSCT受者相比，HC患者尿中BKV基因載量具有更高平均峰值。 結論 Ⅱ~Ⅳ度aGVHD，尿中BKV DNA高載量與HC的發生有相關性。【Abstract】 Objective To identify the risk factors for hemorrhagic cystitis (HC) after allogeneic hematopoietic stem cell transplantation (allo-HSCT), and define the quantitative relationship between BK virus (BKV) DNA load with HC. Methods The medical records of 121 patients undergoing allo-HSCT from March 2003 to January 2008 were retrospectively analyzed. Eight clinical parameters were selected for COX regression analysis, including age, sex, underlying disease, disease status at transplant, donor type, conditioning regimen, acute graft-versus-host disease (aGVHD), and GVHD prophylaxis. From September 2006 to January 2008, mid-stream urine samples were continuously collected from 42 patients with allo-HSCT. SYBR green real-time polymerase chain reaction, technique was utilized to define the quantitative relationship between BKV DNA load and HC. Results Twenty-four out of 121 patients developed HC. The median time of onset was 40 days after HSCT, ranged from 0 to 63 days. The disease lasted for 7 to 150 days, with a median duration of 22 days. Grade Ⅱ-Ⅳ aGVHD [RR=8.304, 95% CI (1.223,56.396); P=0.030] was identified as an independent risk factor for the occurrence of HC. BKV excretion was detected in 100% (42/42) of the recipients of allo-HSCT. When compared with asymptomatic patients and allo-HSCT recipients without HC, patients with HC had a significantly higher mean peak BKV DNA load. Conclusions Patients are at an increased risk of developing HC if they have grade Ⅱ-Ⅳ aGVHD. A correlation between the load of BKV and incidence of HC may exist.
