真性红细胞增多症转为慢性粒细胞白血病再急性变1例

患者 ,男 ,5 6岁。于 1 994年 3月体检时 ,发现红、白细胞增高 ,怀疑炎症未进一步诊治。当时颜面、手掌充血不明显。 1 995年患者面、手掌充血已渐明显但仍未诊治。 1 996年 4月再体检时发现红、白细胞较前明显增高 ,白细胞 2 2 .4× 1 0 9/Ｌ ,红细胞8.75× 1 0 1 2 /Ｌ ,血红蛋白 2 4 0 ｇ/Ｌ ,红细胞压积0 .67,血小板 2 4 4× 1 0 9/Ｌ。同时 ,Ｂ超提示脾肿大(肋间厚 49ｃｍ、肋下厚 2 6ｃｍ、肋下 1 .5ｃｍ)即住我院。入院后再查外周血 :粒细胞ＮＡＰ阳性率 80 % ,积分 2 80 ,骨髓象符合真性红细胞增多症骨髓象 ;血气分析示血氧饱和度 1…     

真性红细胞增多症并脑梗死1例

<正>真性红细胞增多症(PV)是一种起源于造血干细胞的克隆性、慢性骨髓增殖性疾病,主要表现为以红细胞增多为主的两系或三系血细胞增多。血栓形成是其常见的并发症,多为脑动脉栓塞,常导致腔隙性脑梗死。1病例资料患者,女性,63岁,农民,因双下肢乏力入院。患者于10月30日凌晨起夜发现双下肢乏力,不能行走,伴右侧肢体麻木,无头痛、呕吐、意识障碍,无视物成双、视力下降等不适。既往脑梗死、高血压病史10年余。体格检查:体温:36.7℃,     

真性红细胞增多症20例临床分析

真性红细胞增多症（PV）是一种以红细胞增多为主的慢性骨髓增殖性疾病,其发病率低,起病隐匿,常因临床症状不典型而易误诊或漏诊。现就我院2000年1月～2010年5月共收治的20例PV患者进行临床分析,以提高对本病的认识。     

13例真性红细胞增多症临床特征

真性红细胞增多症(PV)属于骨髓增殖性疾病的一种,其发病率较低,起病隐匿,早期症状无特异性,往往未引起人们的注意,患者常在出现较严重的并发症或以其他的症状到医院就诊被发现,有部分患者远期还可能转化成恶性肿瘤,医生起初也往往出现漏诊.     

真性红细胞增多症并发大面积脑梗死1例

<正>血栓形成是真性红细胞增多症(PV)常见的并发症和死亡原因,发病率为40%~60%〔1〕。PV继发的脑梗死以多发腔隙性梗死常见〔2〕现将我科临床诊治大面积脑梗死1例报道如下。1病历摘要患者,女,67岁,因突发神志模糊,反应迟钝1 d入院。患者1 d前无明显诱因突然出现视物模糊后立刻出现神志不清,反应迟钝,无大小便失禁,无明显四肢活动障碍及感觉异常等其他不适,症状未见明显改善,既往外院行头颅CT检查示左侧额叶大面积脑梗死,为求进一步诊治而入我科治疗。既往有骨     

老年人真性红细胞增多症并发舞蹈症1例

真性红细胞增多症(Polycythemia Vera,PV)是一种慢性造血干细胞克隆性骨髓增殖性疾病〔1〕,临床特点为皮肤黏膜红紫、脾脏肿大、伴有血管及神经系统症状。有报道称约90%的PV患者可能出现神经系统并发症〔2〕,而伴发舞蹈症则少见。     

以血压升高为首发表现的真性红细胞增多症一例

患者,女性,52岁。因“血压升高3年,伴头痛2年,加重半月”前来就诊。患者于3年前健康体检发现血压146／96mm Hg,未诉不适,未就诊。当时查血常规：白细胞5．3×10^9,后血压逐渐升高,血压波动在160／100mm Hg～180／110mmHg之间,伴头痛,有时头昏,长期服用非洛地平缓释片、卡托普利片等降压药,血压很难控制在正常范围。近半月头痛头晕加重,伴肢体麻木,多汗,视力模糊。     

真性红细胞增多症120例临床研究

目的：对多项指标进行分析,提高对本病的认识。方法：真性红细胞增多症是发病率较低的（０．６～１．６／１０ 万）血液病,患者来自我国１７ 省市。着重做了血流变、血动力、微循环及骨髓细胞培养。结果：骨髓生成ＢＦＵ－Ｅ集落数明显高于正常,在无ＥＰＯ情况下仍有较多ＢＦＵ－Ｅ生长。结论：对发病及疗效发挥原理的研究有重要意义。     

Transformation from polycythemia vera to acute promyelocytic leukemia: Case report and literature review

Introduction:Transformation from chronic myeloproliferative neoplasm to acute leukemia is a feature of myeloproliferative neoplasm; however, the rate is not high. Transformation to acute promyelocytic leukemia is rare. Here, we report a case of transformation of polycythemia vera to acute promyelocytic leukemia and describe a process of clonal evolution that has not yet been reported.Patient concerns:In this case, a 51-year-old woman was diagnosed with polycythemia vera and concomitant JAK2/V617F mutations in July 2019. She underwent intermittent phlebotomy and oral hydroxyurea irregularly. After 2 years, the patient complained of fatigue and poor sleep quality for 2 months.Diagnosis:Further examination revealed marked hypercellularity and grade 1 bone marrow fibrosis with the PML/RARαV variant (23.85% mutation load), WT1-Exon1 (37.8%), WT1-Exon9 (4.1%), JAK3-Exon7 (49.3%), and RELN-Exon55 (45.8%). According to the World Health Organization classification of tumors of hematopoietic and lymphoid tissues, the patient was ultimately diagnosed with a rare transformation of polycythemia vera to acute promyelocytic leukemia.Interventions:The patient underwent dual induction therapy with all-trans-retinoic acid and arsenic trioxide.Outcomes:After 28 days of induction therapy, the patient achieved complete remission, was compliant and the treatment was well tolerated.Conclusion:Polycythemia vera can transform into acute promyelocytic leukemia; therefore, it is important to review bone aspiration and other tests to perform a comprehensive assessment and monitor the disease status, to detect disease progression and intervene early when it transforms into acute promyelocytic leukemia.     

Treatment of polycythemia vera with hydroxyurea

Conventional treatment of polycythemia vera (PV) with radioactive phosphorus or alkylating agents is associated with a significant excess of acute leukemia and cancer of the gastrointestinal tract and skin. There is thus a need for a nonmutagenic agent in the treatment of this disorder. Hydroxyurea (HU) was administered to 118 patients with a loading dose of 30 mg/kg/day for 1 week, which was then reduced to 15 mg/kg/day. Initial control of the elevated hematocrit and platelet count was achieved within 12 weeks in over 80% of patients. Long-term disease control was defined and the accumulative 1-year failure-free survival was 73% in the previously untreated patients and 59% in those patients previously treated with other myelosuppressive modalities. The HU was well tolerated and cytopenia, which generally occurred within the first 8 weeks of therapy, was transient and of little clinical significance. However, it is recommended because of this toxicity that HU be administered initially at a dose of 15-20 mg/kg/day. Three patients developed acute leukemia; two were untreated and one had had myelosuppressive therapy. Hydroxyurea is an effective agent in the treatment of PV, but continued assessment of its mutagenic potential is necessary.     

Myelodysplastic transformation of polycythemia vera: case report and review of the literature

We report a case of refractory anemia with excess blasts (RAEB) developing in a 67-year old man with a history of polycythemia vera; results of cytogenetic and immunophenotyping studies are described. In this report the clinical, cytogenetic and hematologic features of myelodysplasia complicating polycythemia vera are reviewed. Results of immunophenotyping and cytogenetic studies, and the preponderance of cases developing after myelosuppressive therapy suggest that in the majority of cases myelodysplasia is treatment-related.     

Hydroxycarbamide associated platelet count oscillations in a patient with polycythaemia vera. A case report and review of the literature

We describe an unusual case of oscillating platelet counts in a patient with polycythaemia vera. Following commencement of cytoreductive hydroxycarbamide therapy, episodes of thrombocytopenia were followed regularly by thrombocytosis. Platelet counts fluctuated periodically between approximately 200 and 800 × 109/l, with a 28 day cycle duration. Frequent adjustment of the hydroxycarbamide dose was not successful in preventing the oscillations in platelet count. In contrast, maintenance of a constant dose led to a gradual damping of the cycles and thus termination of the large oscillations. The case further implicates hydroxycarbamide as a potential cause of cyclic variations in platelet counts, and demonstrates that cessation of this drug is not always necessary in order to treat this phenomenon.     

Chronic myelogenous leukemia and acute lymphoblastic leukemia occurring in the course of polycythemia vera

We are reporting an unusual case of a 54-year-old woman with polycythemia vera (PV) who developed Ph chromosome positive chronic myelogenous leukemia (CML) 8 years after the initial diagnosis of PV, and terminating in acute lymphoblastic leukemia (ALL), 11 years after the initial diagnosis. Cytogenetic studies revealed a normal female karyotype at the time of diagnosis of PV and the presence of a Ph chromosome at the time of appearance of CML. Southern blot hybridization revealed a bcr rearrangement in both mononuclear cells and granulocytes. The diagnosis of ALL was established on the basis of morphology, positive TdT staining, and monoclonal antibody studies positive for I2, B4, and J5. This case demonstrates the transition of PV into CML, followed by a blastic transformation into acute lymphocytic leukemia. At termination of her disease there were findings compatible with bi-phenotypic leukemia. These findings would suggest that the disease arose in a primitive multipotential stem cell.     

Polycythemia vera in childhood: Case report and review of the literature

A patient presented at 5 years of age with polycythemia vera. He subsequently developed splenic infarctions and died at 20 years of age following cerebral hemorrhage and infarctions. Two months before his death, he developed hypertension and had biochemical evidence of primary hyperparathyroidism and possibly pheochromocytoma. Only nine reported childhood cases of polycythemia vera fulfill the criteria of the Polycythemia Vera Study Group. These cases are summarized and the complications discussed. Although none have progressed to myeloid metaplasia or acute leukemia, these patients are at risk of developing thrombo-hemorrhagic complications; available evidence indicates that they should be managed to keep the hematocrit between 40 and 45%.     

Transition of polycythemia vera to chronic myeloid leukaemia

A 77-year-old female with polycythemia vera (PV) showed a sudden, typical chronic myeloid leukaemia (CML), 8 yr after the initial diagnosis, and an intermittent treatment with hydroxyurea (0.5-1 g/d) and phlebotomies. At PV diagnosis, the Ph chromosome was negative and no bcr-abl rearrangement was observed; they were both revealed positive at CML onset. Transition of PV to CML is very rare; only seven substantiated cases had been reported in the literature up until now (six from 1964 to 1993). All patients but one received (32)P or alkylating agents for PV treatment. The pathogenetic mechanisms are briefly discussed.     

Coexistence of sarcoidosis and myeloproliferative disease: a case of sarcoidosis preceding polycythaemia vera with a literature review

A patient with the chronic active type of sarcoidosis developed polycythaemia vera 20 years later. A review of the literature shows that sarcoidosis preceding myeloproliferative disease tends to be of the chronic active variety. The same pattern is observed in associations of sarcoidosis with malignant lymphoproliferative disease and solid tumours, in which sarcoidosis appears to be the underlying cause of the subsequent malignancy.     

Coincidental polycythemia vera and multiple myeloma: Case report and review

Polycythemia vera (PCV) and multiple myeloma are both clonal disorders of hematopoietic stem cells. The simultaneous occurrence of these diseases in an individual patient is rare. A case of synchronous PCV and smoldering myeloma is presented and the literature is reviewed. The issues of clinical importance in this unusual case include the mechanisms of anemia in multiple myeloma, the difficulty in using anemia as a parameter on which to base the initiation of therapy for myeloma, and the risks of treatment-induced leukemia and myelodysplasia. © 1993 Wiley-Liss, Inc.     

Masked polycythaemia vera: presenting features,response to treatment and clinical outcomes

Masked polycythaemia vera (PV) has been proposed as a new entity with poorer outcome than overt PV. In this study, the initial clinical and laboratory characteristics, response to treatment and outcome of masked and overt PV were compared using red cell mass and haemoglobin or haematocrit levels for the distinction between both entities. Sixty‐eight of 151 PV patients (45%) were classified as masked PV according to World Health Organisation diagnostic criteria, whereas 16 (11%) were classified as masked PV using the British Committee for Standards in Haematology (BCSH). In comparison with overt PV, a higher platelet count and a lower JAK2V617F allele burden at diagnosis were observed in masked PV. Patients with masked PV needed lower phlebotomies and responded faster to hydroxcarbamide than those with overt PV. Complete haematological response was more frequently achieved in masked than in overt PV (79% vs. 58%, P = 0.001). There were no significant differences in the duration of haematological response, the rate of resistance or intolerance to hydroxycarbamide and the probability of molecular response according to type of PV (masked vs. overt). Overall survival, rate of thrombosis and major bleeding, and probability of transformation was superimposable among patients with masked and overt PV.