| 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 |
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| 引用本文： | 盛 东,王维格,蒋翔男,等. 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[J]. 中国癌症杂志, 2018, 28(12): 900-905. DOI: 10.19401/j.cnki.1007-3639.2018.12.004 |
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| 作者姓名： | 盛 东 王维格 蒋翔男 等 |
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| 作者单位： | 复旦大学附属肿瘤医院病理科，复旦大学上海医学院肿瘤学系 上海 200032 |
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| 基金项目： | 上海市科委引导项目(134119a5000)。 |
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| 摘 要： | 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。
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| 关 键 词： | 淋巴浆细胞性淋巴瘤 华氏巨球蛋白血症 MYD88基因突变 诊断 鉴别 |
Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia: a clinicopathological study of 10 cases with detection of MYD88 L265P mutation |
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| SHENG Dong,WANG Weige,JIANG Xiangnan,et al. Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia: a clinicopathological study of 10 cases with detection of MYD88 L265P mutation[J]. China Oncology, 2018, 28(12): 900-905. DOI: 10.19401/j.cnki.1007-3639.2018.12.004 |
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| Authors: | SHENG Dong WANG Weige JIANG Xiangnan et al |
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| Affiliation: | Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China |
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| Abstract: | Background and purpose: Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM) is a rare subtype of indolent B-cell lymphomas and often needs to be distinguished with other subtypes of small B-cell neoplasms. This study aimed to observe the clinicopathological characteristics of LPL/WM and the frequency of MYD88 mutation in this category of neoplasm. Methods: The clinical, histological and immunohistochemical features of 10 cases with LPL/WM were retrospectively studied, and the MYD88 L265P mutation status was analyzed by using a polymerase chain reaction (PCR) assay and direct sequencing. Results: All patients were male with a medium age of 61 years. Common clinical manifestations included fatigue and anaemia. All cases presented with monoclonal immunoglobulinemia and bone marrow involvement. Microscopy of the biopsied lymph node revealed a partially preserved architecture, frequently with a patent sinus, and the neoplastic cells comprised variable numbers of plasma cells, small lymphocytes and plasmacytoid lymphocytes. Bone marrow biopsy displayed the same changes. Immunohistochemically, the neoplastic cells of all cases were intensively positive for CD20 and showed restricted expression of the immunoglobulin light chain κ. Six cases were positive for CD23, and 2 expressed CD5 at low level. No CD10-positive cases were identified. The Ki-67 index ranged from 5% to 30%. In addition, reactive plasma cells with IgG4 expression were noted in 2 cases.All of the 10 LPL/WM cases carried MYD88 L265P mutation, whereas the cases with other subtypes of small B-cell neoplasms as the control demonstrated a negative result. Conclusion: LPL/WM is frequently associated with typical clinicopathological features, although occasional examples may demonstrate aberrant phenotypes. As a characteristic molecular genetic aberration of LPL/WM, the implication of detection for MYD88 L265P mutation may provide additional, reliable aids in the diagnosis and distinction of this unusual tumour. |
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| Keywords: | Lymphoplasmacytic lymphoma Waldenström macroglobulinemia MYD88 mutation Diagnosis Differential diagnosis |
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