白血病样非淋巴结性套细胞淋巴瘤临床病理观察

Clinicopathologic features of leukaemic non-nodal mantle cell lymphoma

目的观察白血病样非淋巴结性套细胞淋巴瘤(LNNMCL)临床病理特征。方法收集2例LNNMCL患者临床及实验室检查资料,取骨髓或脾脏组织进行病理检查,利用HE染色、免疫组化等方法明确诊断后治疗并随访,结合文献分析疾病的临床病理特点。结果2例均为老年患者,实验室检查外周血淋巴细胞绝对计数显著增高,影像学检查脾大,未检测到肿大淋巴结,血涂片内检测到小到中等大淋巴细胞,核圆或椭圆,深染,可见凹陷及小核仁,流式检测提示肿瘤细胞表达B系表型;病理检查肿瘤淋巴细胞免疫组化阳性表达CD20、CD79a、PAX-5、CD5、CD43、CyclinD1,阴性表达SOX11、Bcl-6、CD10,细胞增殖活性较低,Ki-67增殖指数约5%;一例患者外周血肿瘤细胞核型分析染色体为非复合核型伴t(11;14)(q13;q32)染色体易位,另一例患者在脾脏组织中用二代测序检测出IgH/CylinD1基因易位,2例基因检测均显示IgHV及P53突变。综合临床、形态、免疫表型及基因检测结果,诊断为白血病样非淋巴结性套细胞淋巴瘤。采用化疗和靶向治疗后,分别随访69、12个月,患者病情稳定,健康状况良好。结论白血病样非淋巴结性套细胞淋巴瘤可能具有惰性临床过程,正确诊断并选择适当的治疗措施具有重要临床意义。

Objective To describe the clinicopathologic features of leukaemic non-nodal mantle cell lymphoma(LNNMCL).Methods The clinical and laboratory examination data of two patients with LNNMCL were collected,and the bone marrow or spleen tissue was biopsied for pathological examination.Hematoxylin and eosin-stained slides from formalin-fixed,paraffin-embedded tissue were reviewed.Immunohistochemical studies were performed on sections using an automated immunostainer to confirm the diagnosis.The clinicopathological features of the disease were analyzed in combination with criteria of the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue.Disease progression was monitored through regular follow-up investigations.Results The two old patients who first presented significant increase in peripheral blood lymphocytes and splenmegaly without lymphadenopathy in CT scan were examined,the peripheral smear showed atypical lymphocytes.Immunohistochemically,in specimen of bone marrow or spleen the atypical lymphocytes showed positive CD20,CD79 a,PAX-5,CD5,CD43,CyclinD1,but negative for SOX11,Bcl-6,CD10,and Ki-67 index was about 5%;flow cytometry showed B-lineage phenotype,one karyotyping analysis showed the t(11;14)(q13;q32)translocation,the other IgH and CylinD1 translocations were detected in the spleen tissue by Next Generation Sequencing.Molecular test showed IgHV and P53 mutation.By reviewing related literatures,the leukaemic non-nodal mantle cell lymphoma was diagnosed.After chemotherapy and targeted therapy,the patients were followed up for 69 and 12 months with good health.Conclusion LNNMCL is a particular subtype of mantle cell lymphoma with possible indolent clinical course.Correct diagnosis and proper treatment are of great clinical significance.