以耳聋为首发症状的慢性粒细胞急性变一例

１　病例介绍患者,男,２１岁,因进行性耳聋２个月,于１９８７年１１月１９日入院。入院后检查：扁桃体Ⅲ°肿大（拟行择期手术）。实验室检查血常规异常,转入血液科。体查：Ｔ３６．６℃,Ｐ６６次／ｍｉｎ,ＢＰ１６／８ｋＰａ,表情呆板,听力明显下降,皮肤粘膜无出血点,浅表淋巴结有不同程度肿大,以双颌下、左颈部及腹股沟为主,邮政编码：天津,３００３８１质硬无压痛,双侧扁桃体Ⅲ°肿大,胸骨及肩胛骨压痛阳性,心肺无异常,肝肋下未及,脾侧卧可及１．５ｃｍ,质硬无触痛。实验室及特殊检查：ＷＢＣ６６．８７×１０９／…     

慢性粒细胞白血病急变为组织细胞白血病1例

患者男 ,49岁。以周身乏力 1年 ,加重伴低热、气短 1周入院。患者 1年前无明显原因出现周身乏力 ,在当地医院就诊 ,检查发现巨脾 ,外周血白细胞 2 0× 1 0 9/L ,经骨髓涂片检查确诊为慢性粒细胞白血病 (CML) ,给予羟基脲治疗 ,自觉症状好转 ,脾脏回缩 ,白细胞控制在 1 0× 1 0 9/L以下。本次入院前 1周出现周身乏力加重 ,低热 ,气短 ,活动后明显 ,伴双下肢浮肿。体检 :贫血貌 ,皮肤黏膜无出血及黄染 ,浅表淋巴结不大 ,胸骨压痛 ,双肺底呼吸音减弱 ,心界向两侧扩大 ,心音弱。腹部略膨隆 ,肝脏肿大 ,肋下 4cm ,质地Ⅱ度硬 ,边缘钝 ,表面光滑…     

以中枢神经系统症状首发的慢性淋巴细胞白血病1例并文献复习

慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)是成熟B淋巴细胞的恶性肿瘤,以外周血、骨髓和淋巴组织中出现大量克隆性增殖的小淋巴细胞为特征.CLL中枢神经系统(central nervous system,CNS)受累导致神经系统症状很少见,一项Mayo诊所针对4174例CLL患者...     

慢性中性粒细胞白血病1例

慢性中性粒细胞白血病（CNL）是一种罕见白血病,WHO的国际血液肿瘤分类标准已将其作为慢性骨髓增殖性疾病（MPD）的独立分型。1920年由Touhy首次报告,至2001年西方文献的报告不足100例,1977—2001年的25年间我国文献报告CNL76例。我院收治1例CNL患者,现报告如下。     

以脾脓肿为首发表现的慢性中性粒细胞白血病1例报道

慢性中性粒细胞白血病(chronic neutrophilic leukemia,CNL)是一种以外周血成熟中性粒细胞持续性增多为特征,且BCR-ABL融合基因阴性的骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN),发病率极低[1].CSF3R突变编码的集落刺激因子受体,在粒细胞的增殖、...     

以血尿为首发表现的慢性中性粒细胞白血病一例

患者,男,78岁,退休教师。因“排尿困难、尿血1天”于2009年9月就诊,门诊行耻骨上穿刺尿液抽吸后收住泌尿外科。既往有“前列腺增生、尿道狭窄”行“前列腺部分电切、尿道扩张术”多年。有高血压、冠心病病史。     

不典型慢性粒细胞性白血病1例报道并文献复习

不典型慢性粒细胞白血病(atypical chronic myeloid leukaemia,aCML)是Ph染色体及bcr-abl融合基因均阴性的克隆性造血异常疾病,具有骨髓增生异常和骨髓增殖性肿瘤(MDS/MPN)的双重特性[1].其临床特点:骨髓以成熟中性粒细胞及中、晚幼粒细胞的增多,可伴有轻度贫血、血小板减少等类似慢性粒细胞白血病(chronic myeloid leukaemia,CML)的症状,但Ph染色体及bcr/abl融合基因均阴性.2008年WHO肿瘤分类中,将aCML归类MDS/MPN[2].本病的临床表现和生物学特性与慢性粒单核细胞白血病(chronic myelomonocytic leukaemia,CMML)、慢性中性粒细胞白血病(chronic neutrophilic leukemia,CNL)等有许多相似之处,这给诊断带来一定困难,本文报道1例确诊的aCML.     

多发性骨髓瘤合并慢性中性粒细胞白血病一例并文献复习

目的 探讨多发性骨髓瘤（MM）合并慢性中性粒细胞白血病（CNL）的主要临床特点、诊断和治疗方法.方法 分析我科收治的1例MM合并CNL患者的临床表现及相关实验室检查,总结国内外报道的共29例患者的主要特征,并查阅相关文献,探讨本病的治疗方法.结果 MM合并CNL是一种罕见疾病,可能源于共同的造血干细胞异常,我们采用CTD方案化疗4个疗程,取得满意效果.结论 MM合并CNL罕见,其病因、发病机制及治疗方案需进一步探讨,CTD方案可能是有效的治疗本病的方法.     

小儿慢性粒细胞白血病1例

患儿，男，9个月。出生6个月时家长发现患儿腹部膨胀，伴腹泻，以“小儿肠炎”治疗，疗效不佳，而且颈、背部及四肢出现淡红色皮疹。20d前在当地县医院就诊时发现肝、脾肿大，面色苍白，3d前出现发热，于2000年9月2日人我院。体检：体温37℃，精神差，面色苍白，颈、背四肢见米粒大小红     

Marked hypodiploidy in blast phase chronic myelogenous leukemia: report of a case and review of the literature

The emergence of a near-haploid clone of cells in blast phase chronic myelogenous leukemia is an unusual event. We report such a case and review eight other cases described in the English literature. The significance of the substantial loss of genetic material is discussed as is the phenotypic and genotypic heterogeneity observed in this group of patients.     

慢性粒细胞白血病急变为急性巨核细胞白血病1例

急性巨核细胞白血病(AMLK)占所有急性髓系白血病中发生率的0.5%~1.2%,其中慢性粒细胞白血病(CML)转化为AMLK的比例报道不一。现报道1例以骨髓纤维化(MF)首诊的AMLK,最终通过电镜、免疫分型以及分子生     

Paraplegia as the presenting manifestation of extramedullary megakaryoblastic transformation of previously undiagnosed chronic myelogenous leukemia

Extramedullary tumors, also known as granulocytic sarcomas (GS), occur most frequently in acute myelogenous leukemia (AML). They may signal the onset of the accelerated phase of chronic myelogenous leukemia (CML) or the blastic transformation of a myeloproliferative disorder. Occasionally, a GS may be the presenting sign of undiagnosed AML, and rarely the presenting sign of undiagnosed CML or aleukemic leukemia. Paraplegia due to a spinal cord GS is an extremely rare presentation of undiagnosed leukemia. This is the first case report of paraplegia as the presenting manifestation of extramedullary megakaryoblastic transformation of previously undiagnosed CML. A 53-year-old woman reported back pain for 6 days, rapidly progressing to paraplegia. Physical examination noted a large abdominal mass and flaccid paralysis in both lower extremities. Spinal MRI revealed a T4-T6 vertebral mass causing spinal stenosis and cord compression. Tumor debulking and laminectomy were performed emergently. The tumor consisted of noncohesive blast cells. The CBC revealed a leukocyte count of 238,300/microl and a differential consistent with CML. Reexamination of the patient found that the abdominal mass was a giant spleen. Further immunohistochemical studies of the tumor were consistent with extramedullary acute megakaryoblastic blast transformation of CML. Although extramedullary blast crises herald the accelerated phases in approximately 10% of CML cases, megakaryoblastic blast transformation of CML accounts for less than 3% of these cases. The combination of acute paraplegia and megakaryoblastic transformation in a previously undiagnosed patient with CML is extremely rare and may pose a diagnostic dilemma.     

Leukapheresis for control of chronic myelogenous leukemia during pregnancy

Leukapheresis was used as the sole modality of treatment of a patient with chronic myelogenous leukemia (CML) during her pregnancy. The specific requirements for safe leukapheresis during pregnancy are discussed, and the literature describing the management of CML during pregnancy is reviewed. Leukapheresis may be the treatment of choice in selected pregnancy patients with CML since it avoids the potential teratogenic effects of chemotherapy or radiation therapy.     

Differential diagnosis from isolated lymphoid extramedullary blast crisis from secondary non-Hodgkin lymphoma in chronic myelogenous leukemia: a case report and literature review

Case: Extramedullary blast crisis (EBC) is a special kind of blast crisis of chronic myelogenous leukemia (CML). It is more likely to be misdiagnosed as lymphoma when EBC cells are of lymphoid cell lineage and lymphadenopathy is the only symptom before the final diagnosis. In this study, we presented a patient with an unusual presentation of CML transformation as a rapid growth of generalized lymphadenopathy that appeared 5 months after the initial diagnosisof CML. The patient underwent the left supraclavicular lymph node biopsy and repeat bone marrow aspiration. The revealed CD3+, terminal deoxynucleotidyl transferase (TdT)+, CD5+, CD23+, myeloperoxidase (MPO)-, CD20-, cyclin D1-, CD10-, which was consistent with the diagnosis of T-cell lymphoblastic lymphoma (T-LBL). Fluorescence in situ hybridization (FISH) verified the BCR-ABL rearrangement, and T-cell EBC of CML was finally diagnosed. Our report suggested that the FISH was necessary to distinguish isolated lymphoid extramedullary blast crisis from secondary NHL in CML.     

Splenic function in chronic myelogenous leukemia

Spleen function was evaluated by measurement of the clearance of autologous heat-damaged 99mTc-labelled erythrocytes from the circulation and into the spleen and the enumeration of pitted erythrocytes by interference contrast microscopy, and the spleen area was determined by scintillation scanning. All measurements were performed on 12 patients with chronic myelogenous leukemia and compared with 10 controls with apparently normal spleens, 6 splenectomized subjects and 9 patients with a reactive splenomegaly. Patients with CML had spleen function test results similar to normal controls in spite of having enlarged spleens whose projection area did not differ from that of the patients with reactive splenomegaly. Thus, patients with CML have a decreased spleen function per unit volume and signs of splenic hypofunction in the peripheral blood. The reduction of spleen function per unit volume in CML is the result of a severe decrease of the splenic blood perfusion which could result from the combined effects of the myeloid metaplasia and the increased whole-blood viscosity due to high white-cell counts.     

Chronic myelogenous leukemia and Klinefelter's syndrome

A case of chronic myelogenous leukemia with Klinefelter's syndrome mosaicism in a 27-yr-old male is reported. Cytogenetic analysis provided evidence that the Philadelphia chromosome occurred monoclonally in the XXY cells but not in the XY cells.     

Blastic mantle cell lymphoma developing concurrently in a patient with chronic myelogenous leukemia and a review of the literature

Non-Hodgkin's lymphoma (NHL) occurring as a synchronous malignancy with chronic myelogenous leukemia (CML) is rare. To our knowledge, this is the first case reported of a patient who developed mantle cell lymphoma (MCL) after therapy with imatinib mesylate for CML. After a 3-year history of CML, the patient developed a lymphocytosis associated with diarrhea, anorexia, and weight loss. Imaging studies revealed abdominal adenopathy and extensive lymphomatous infiltration of the liver, stomach, pancreas, and kidneys. Flow cytometric and cytogenetic studies were consistent with MCL. Fluorescence in situ hybridization (FISH) of the bone marrow revealed a genetically distinct lymphoid neoplasm rather than an extramedullary blast crisis of CML. The development of lung cancer, prostate cancer, CML and MCL in this patient suggests a genetic predisposition, although other factors, including environmental exposures and therapy with imatinib mesylate could have had a contributory or synergistic role in the development of MCL.     

慢性髓性白血病临床诊疗指南与中国实践

伊马替尼作为第一代酪氨酸激酶抑制剂,给Ph+慢性髓性白血病(CML)患者带来了革命性的疗效,NCCN及ELN将其推荐为CML的首选治疗。但伊马替尼存在治疗费用高且不能停药、产生耐药、更长期的疗效尚待观察等限制。依据我国的国情,中国CML实践推荐针对不同患者,给予TKI、HSCT、干扰素及细胞毒药物结合的个体化治疗。     

Terminal deoxynucleotidyl transferase in the blastic phase of chronic myelogenous leukemia: an indicator of response to vincristine and prednisone therapy

Terminal deoxynucleotidyl transferase (TdT) activity was assayed in leukemic cells of 34 patients in blastic phase of Philadelphia-positive chronic myelogenous leukemia (CML). The TdT levels were correlated with the response to vincristine and prednisone therapy. None of 20 Tdt-negative patients, but 10 of 14 TdT-positive patients responded to vincristine and prednisone. There was poor correlation between blast cell morphology and response to this therapy. This study confirms that TdT levels in the majority of patients predict effectiveness of vincristine and prednisone therapy in blastic phase of CML.