原发性巨球蛋白血症15例

目的探讨原发性巨球蛋白血症（WM）的临床特点。方法回顾性分析15例患者临床表现、免疫表型及治疗。结果3例完全缓解（CR）,9例部分缓解（PR）,7例生存,病程最长达79个月。结论WM传统的诊断方法不够完善,免疫表型能够更进一步明确诊断。在治疗方面,WM是不能治愈性疾病,但经积极治疗生存期可延长,应考虑化疗并血浆置换联合治疗。     

淋巴浆细胞性淋巴瘤/华氏巨球蛋白血症10例临床病理学特征分析及MYD88基因突变检测

背景与目的：淋巴浆细胞性淋巴瘤/华氏巨球蛋白血症（lymphoplasmacytic lymphoma/Waldenström macroglobulinemia,LPL/WM）是罕见的B细胞惰性淋巴瘤,其诊断常需要与其他小B细胞性肿瘤作鉴别。本研究皆在探讨LPL/WM的临床病理学特点,并观察MYD88基因突变在此类肿瘤中的检出频率。方法：分析10例LPL/WM病例的临床资料、组织学形态和免疫组织化学表型,并以聚合酶链反应（polymerase chain reaction,PCR）扩增及直接测序法检测肿瘤标本MYD88基因的状态。结果：10例患者均为男性,中位年龄61岁。患者多表现为乏力和贫血,均有不同程度的IgM型免疫球蛋白血症和肿瘤骨髓累及。淋巴结活检标本光镜检查显示淋巴结结构部分存在,特别是可以见到开放的淋巴窦。肿瘤由数量不等的浆细胞、小淋巴细胞及浆样淋巴细胞组成。骨髓活检标本也可见到相同形态的细胞浸润。免疫组织化学染色显示,10例肿瘤细胞均呈CD20弥漫阳性并限制性表达免疫球蛋白轻链κ,6例瘤细胞表达CD23,2例部分瘤细胞表达CD5,未见病例表达CD10,Ki-67增殖指数在5%~30%之间。另外,2例LPL/WM在其病灶中尚可见到较多的IgG4阳性反应性浆细胞浸润。所有LPL/WM病例肿瘤组织均有MYD88 L265P突变检出,而对照组其他小B细胞性肿瘤均为阴性结果。结论：LPL/WM多具有典型的临床病理学形态,但偶亦可出现异常表型。MYD88 L265P作为LPL/WM的特征性遗传学特点,其检测的引入可使此类肿瘤的诊断和鉴别有更可靠的依据。     

沙利度胺治疗原发性巨球蛋白血症疗效观察

目的：探讨小剂量沙利度胺治疗原发性巨球蛋白血症(WM)的临床疗效。方法：WM患者4例。沙利度胺75mg／d,疗程3个月以上根据治疗前后血液免疫球蛋白含量的变化来评定疗效。结果：4例患者血清免疫球蛋白的含量均有不同程度的下降,其中下降幅度最高达21．5g／L。4例WM患者仅1例出现轻微不良反应。结论：小剂量沙利度胺治疗原发性巨球蛋白血症有一定疗效。     

巨球蛋白血症3例及文献复习

目的:探讨巨球蛋白血症的临床表现、诊断、鉴别诊断和治疗。方法:分析我科收治的3例巨球蛋白血症患者的临床资料及诊治过程,并复习相关文献。结果:本文3例患者发病时均出现不同程度贫血、单克隆IgM及骨髓浆细胞样淋巴细胞浸润,例1及例3可见高黏滞综合征所致鼻出血或牙龈出血。其中例1及例2接受苯丁酸氮芥联合强的松方案治疗,例3未接受治疗。例1目前病情平稳,例2死亡,例3失访。结论:巨球蛋白血症的诊断与鉴别诊断有赖于形态学及免疫表型检查。烷化剂、嘌呤类似物及利妥昔单抗是WM一线治疗药物。     

华氏巨球蛋白血症的骨髓病理特点与鉴别

 目的　探讨华氏巨球蛋白血症（WM）的骨髓病理特点、诊断与鉴别。方法　19例WM患者行骨髓穿刺（BMA）及骨髓活组织检查（BMB）进行形态学观察,用流式细胞术（FCM）及免疫组织化学（IHC）方法进行免疫表型分析。结果　11例BMA示浆细胞样淋巴细胞增生。BMB示19例均见瘤细胞侵犯,其中17例主要为小淋巴细胞增生,2例主要为浆细胞样淋巴细胞增生。4例未见典型的浆细胞样淋巴细胞。骨髓侵犯呈弥漫型12例,结节型4例,间质型3例。FCM示14例瘤细胞CD+19、CD+20、CD+22、CD-5、CD-10。IHC示小淋巴细胞及浆细胞样淋巴细胞CD+20、Pax5+,浆细胞CD+38、CD+138、CD-20、Pax5-。结论　小淋巴细胞增生伴有浆细胞样分化是WM的典型骨髓病理组织学改变,IHC有利于识别淋巴细胞及浆细胞两种不同的细胞成分,形态学与FCM、IHC相结合有助于WM的诊断与鉴别。     

华氏巨球蛋白血症的个体化治疗研究进展

华氏巨球蛋白血症（WM）是一种少见的淋巴瘤,目前的治疗手段仍不能治愈。MYD88和CXCR4基因突变是该病的特征。对WM患者的临床表现、病理及遗传学特征等方面的研究进展,已经催生了一系列极具前景的WM临床治疗方案。现结合第59届美国血液学会（ASH）年会关于WM的个体化治疗相关研究进展的最新报道,对WM患者应用烷化剂、蛋白酶体抑制剂、单克隆抗体及酪氨酸激酶抑制剂（BTK）等药物的安全性和有效性进行综述,探讨以基因组特征为主的基础治疗与现有治疗方案整合治疗WM的可行性。     

淋巴浆细胞淋巴瘤/华氏巨球蛋白血症三例并文献复习

目的 探讨淋巴浆细胞淋巴瘤/华氏巨球蛋白血症（LPL/WM）的临床特征、诊断及治疗方法.方法 分析3例典型LPL/WM患者的诊疗经过,并进行相关文献复习.结果 3例患者诊断明确为LPL/WM并进行治疗,病情基本稳定.结论 LPL/WM临床上少见,易误诊,尝试进行个体化治疗是一种选择.     

急性白血病首次复发后免疫表型及细胞遗传学改变

目的 :分析成人急性白血病首次复发前后免疫表型和细胞遗传学改变。方法 :采用间接荧光法分析急性白血病患者的免疫表型 ,用 G分带技术研究患者的染色体核型。结果 :5例中 4例急性淋巴细胞白血病 ( ALL )复发后的患者发生免疫表型变化 ,均涉及 CD3 4 抗原表达 ;CD3 4 抗原的表达与再诱导治疗结果呈负相关。 10 /12例急性髓细胞白血病 ( AML )复发患者免疫表型发生改变 ,涉及 CD1 4 、CD1 5 、CD1 3 、CD3 3 、CD3 4 、CD7、HLA-DR等抗原 ;CD1 4 、CD3 3 、CD3 4 发生改变的患者再诱导治疗效果差 ;CD1 5 由阴性转为阳性的患者再诱导效果较好。 7例患者复发前后均进行了染色体核型分析 ,4例出现主要的染色体核型改变 ,其中 3例为异常核型转为正常核型 ;染色体核型发生改变的病例再诱导治疗效果均较差。结论 :成人急性白血病复发后免疫表型和细胞遗传学均可发生改变 ,这些改变与再诱导治疗的结果有关。     

硼替佐米治疗淋巴浆细胞淋巴瘤/华氏巨球蛋白血症二例并文献复习

目的 探讨硼替佐米治疗淋巴浆细胞淋巴瘤/华氏巨球蛋白血症(LPL/WM)的临床效果.方法 分析在河南省肿瘤医院就诊的2例典型LPL/WM患者的诊疗经过,并进行相关文献复习.结果 2例患者明确诊断为LPL/WM,经过治疗病情稳定,达到完全缓解.结论 硼替佐米治疗LPL/WM可以获得较好的效果.     

脾边缘区淋巴瘤的诊断

目的:探讨脾边缘区淋巴瘤的临床特征、诊断及鉴别诊断。方法:回顾性分析华中科技大学同济医学院附属同济医院2019年收治的3例表现为脾大、血细胞减少的CD5 - CD10 - B细胞非霍奇金淋巴瘤患者的临床诊断及鉴别诊断过程,并复习相关文献。 结果:3例均为老年患者,均出现不同程度的脾大和血细胞减少,均在骨髓或淋巴结中发现CD5 - CD10 -单克隆B淋巴细胞。综合患者的临床特征、外周血及骨髓形态、免疫表型和遗传学特征,2例患者诊断为脾边缘区淋巴瘤,1例患者诊断为弥漫大B细胞淋巴瘤。 结论:脾边缘区淋巴瘤的诊断需综合临床特征、外周血及骨髓形态、免疫表型和遗传学特征,与其他CD5 - CD10 -小B细胞淋巴瘤进行仔细鉴别。新一代基因突变高通量检测和表达谱分析有助于不典型疑难病例的精准诊断。     

IgM multiple myeloma presenting with bleeding tendency: a case report with immunophenotype analysis

IgM multiple myeloma (MM) is an extremely rare lymphoproliferative disease associated with an aggressive clinical course. However, the diagnosis of IgM MM may be complicated by Waldenstrom's macroglobulinemia (WM), particularly when clinical manifestations and morphological features are not typical. It is crucial to distinguish between IgM MM and WM as their prognoses and treatment strategies are different. We report a case of IgM MM presenting with bleeding tendency and an immunophenotype analysis using flow cytometry and immunohistochemistry. Bone marrow cells exhibited a typical phenotype for plasma cells, expressing monoclonal cytoplasmatic IgL-λ, CD38 and CD138 instead of pan-B cell antigens CD19, CD20 and CD22, which are characteristic of the typical immunophenotype of WM. Therefore, the diagnosis of IgM MM was confirmed in this case, highlighting the significance of detailed immuno-phenotypic evaluation when clinical and morphological features are atypical.     

Differential diagnosis of Waldenstrom's macroglobulinemia from other low-grade B-cell lymphoproliferative disorders

Waldenstrom's macroglobulinemia (WM) is a rare lymphoproliferative disorder (LPD) characterized by lymphoplasmacytic infiltration of the bone marrow (BM) and/or occasionally other tissues and by the presence of a serum monoclonal IgM. The disease belongs to the lymphoplasmacytic lymphoma (LPL) subtype. Whether WM is indeed a separate entity or is merely an IgM-secreting subtype of low-grade B-cell lymphoma is still controversial. In our series of 67 patients, WM has a long median overall survival of 110 months, and the male/female ratio is 1.2/1. Clinical features include a wide spectrum of manifestations, many of which may be common to other LPDs. Differential diagnosis is based on: (1) clinical and laboratory features (anemia, organomegaly, lymphadenopathy, IgM paraproteinemia), (2) cell morphology (lymphocytes, lymphoplasmacytes, few plasma cells), (3) histopathology of bone marrow or lymph node, (4) immunophenotype (CD5 expression and the intensity of CD5, CD20, and CD79b antigens may help in discrimination from other LPDs and atypical CLL), and (5) characteristic genetic features (present in other LPDs). Based on the former, diagnosis is usually easy. It may be harder in LPL cases not secreting IgM. We consider that WM should be, for the time being, handled as a separate entity. Further studies are necessary.     

Appropriateness of applying the response criteria for multiple myeloma to Waldenstrom's macroglobulinemia?

Since the presence of an M-component is an essential disease feature in both multiple myeloma (MM) and Waldenstrom's macroglobulinemia (WM), the decrease in the M-protein size applied for response in MM is also a crucial criteria for assessing response in WM. However, WM frequently displays lymphoma-like features that should be included in the response criteria.     

Prognostic markers and criteria to initiate therapy in Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's Macroglobulinemia

This presentation represents consensus recommendations on prognostic markers and criteria to initiate therapy in patients with Waldenstrom's macroglobulinemia (WM), which were prepared in conjunction with the Second International Workshop held in Athens, Greece during September 2002. The panel recommended that initiation of therapy should not be based on the IgM level per se since this may not correlate with the clinical manifestations of WM. The consensus panel agreed that initiation of therapy was appropriate for patients with constitutional symptoms such as recurrent fever, night sweats, fatigue due to anemia, or weight loss. The presence of progressive, symptomatic lymphadenopathy or splenomegaly provide additional reasons to begin therapy. The presence of anemia with a hemoglobin value of 相似文献   

Bing–Neel syndrome: an illustrative case and a comprehensive review of the published literature

Waldenstrom’s macroglobulinemia (WM) is a chronic lymphoproliferative disorder within the spectrum of lymphoplasmacytic lymphoma characterized by proliferation of plasma cells, small lymphocytes, and plasmacytoid lymphocytes. Central nervous system involvement is very rare (Bing–Neel [BN] syndrome). We present the case of a 62-year-old woman previously diagnosed with WM who presented with Bing–Neel syndrome and review the published literature which consists of only case reports. We performed a Medline search using the terms “Waldenstrom’s macroglobulinemia and central nervous system” and “Bing–Neel” collecting data on presentation, evaluation, treatment, and outcome and summarizing these findings in the largest pooled series to date. Central nervous system manifestations are localization related. Serum laboratory testing reflects systemic disease. Cerebrospinal fluid analysis may show lymphocytic pleocytosis, elevated protein, and IgM kappa or lambda light chain restriction; cytology results are variable. Imaging is frequently abnormal. Biopsy confirms the diagnosis. Treatment data are limited, but responses are seen with radiation and/or chemotherapy. BN syndrome is a very rare complication of WM that should be considered in patients with neurologic symptoms and a history of WM. Treatment should be initiated as responses do occur that may improve quality of life and extend it when limited or no active systemic disease is present.     

Clinicopathological definition of Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's Macroglobulinemia

This presentation represents consensus recommendations for the clinicopathological definition of Waldenstrom's macroglobulinemia (WM), which were prepared in conjunction with the Second International Workshop held in Athens, Greece during September 2002. WM is an uncommon lymphoproliferative disorder characterized primarily by bone marrow infiltration and IgM monoclonal gammopathy. It should be considered a distinct clinicopathological entity rather than a clinical syndrome secondary to IgM secretion. The underlying pathological diagnosis in WM is lymphoplasmacytic lymphoma as defined by the World Health Organization (WHO) and Revised European-American Lymphoma (REAL) classification criteria. The concentration of monoclonal IgM can vary widely in WM and it is not possible to define a concentration that reliably distinguishes WM from monoclonal gammopathy of undetermined significance (MGUS) and other lymphoproliferative disorders. A diagnosis of WM can therefore be made irrespective of IgM concentration if there is evidence on a bone marrow trephine biopsy of bone marrow infiltration by lymphoplasmacytic lymphoma with predominantly an intertrabecular pattern, supported by appropriate immunophenotypic studies. Simple criteria to distinguish patients with symptomatic WM who require therapy from those with asymptomatic WM and MGUS were also proposed. Patients with clinical features attributable to IgM monoclonal gammopathy but no overt evidence of lymphoma are considered to constitute a distinct clinical group and the term "IgM-related disorders" is proposed.     

Bilateral ocular involvement as a presentation of Waldenström’s macroglobulinemia

We describe a 54 years old female with Waldenstrom’s macroglobulinemia who presented with a bilateral ocular involvement. Ophthalmic involvement in Waldenstrom’s macroglobulinemia is very rare. In addition, to our knowledge, there are only a few reports in the literature in which a primary diagnosis was made on the basis of ocular involvement. Diagnosis of malignancy in our case was established on the basis of the presence of small lymphocytes in fine-needle aspiration cytology from the orbital mass and typical bone marrow aspiration immunophenotype for Waldenstrom’s macroglobulinemia.     

The impact of advanced age according to IPSSWM cut-off on the outcome of symptomatic and asymptomatic Waldenström's macroglobulinemia at diagnosis

Advanced age is one of the variables more frequently considered to be associated with an adverse prognosis in Waldenström's macroglobulinemia (WM). In a series of 238 symptomatic and asymptomatic WM patients, we retrospectively identified an age cut-off distinguishing two groups of patients with different outcome in terms of overall survival (OS), disease-specific survival (DSS) and treatment-free survival (TFS). Although for the OS the best cut-off was identified at 65 years with shorter OS for elderly patients, no difference was detected in terms of DSS between the two groups. Furthermore, patients over 65 years showed a longer TFS compared with patients under 65 years. Clinical and laboratory disease characteristics did not significantly differ between the two groups of patients except for β₂M level. Therefore, the poorer survival of patients over 65 years at diagnosis should probably be attributed to the higher number of no disease-related deaths and is independent from WM.     

Role of Plasmapheresis in Waldenström's Macroglobulinemia

Despite the absence of randomized trials, plasmapheresis has consistently demonstrated efficacy in treatment of Waldenström's macroglobulinemia (WM) patients with hyperviscosity syndrome (HVS). This procedure can promptly reverse most clinical manifestations of serum HVS. Early diagnosis is crucial and usually can be made from the funduscopic exam. Serial viscosity measurements can be monitored by the Ostwald tube method which is simple, reproducible, and for which there is substantial clinical correlation. The concept of a symptomatic threshold, whereby each WM patient has a distinct viscosity threshold for the development of HVS, seems valid. Maintaining serum viscosity below each patient's symptomatic threshold effectively prevents recurrent HVS. Plasmapheresis is sometimes necessary as an emergency procedure and is useful maintenance therapy in selected patients. Prophylactic plasmapheresis should be considered in patients at risk for HVS after rituximab therapy. Vigorous plasmapheresis in WM patients with syndromes because of autoreactive immunoglobulin M antibodies requires further study.