Objective: To investigate the clinicopathological features, molecular genetics, treatment and prognosis of Burkitt-like lymphoma with 11q aberration (BLL-11q). Methods: Six cases of BLL-11q diagnosed at the First Affiliated Hospital of Zhengzhou University, from January 2016 to January 2020 were reviewed and analyzed using hematoxylin-eosin staining, immunohistochemistry, EBER in situ hybridization and fluorescence in situ hybridization. Clinical information including follow-up data was collected and analyzed. Results: The median age of the six immunocompetent patients was 29 years (range 20-38 years) and the male to female ratio was 5∶1. All patients had nodal disease in the head and neck region. Five patients had Ann Arbor stage Ⅰ-Ⅱ disease, while one patient had stage Ⅳ disease. Lymph nodes showed partial or total architectural effacement by a diffuse proliferation of monomorphic lymphocytes. Four cases were morphologically similar to Burkitt lymphoma, and two cases were unclassified with histological features between Burkitt lymphoma and diffuse large B-cell lymphoma. Mitotic figures, apoptosis and necrosis were conspicuous. Five cases exhibited the"starry sky"pattern. CD20, CD10 and bcl-6 were diffusely and strongly positive. The Ki-67 index was more than 95%. The follicular-dendritic-cell meshwork was noted in one case using CD21 stain. C-MYC was expressed variably. CD3, bcl-2, MUM-1, CD30 and TDT were negative in all cases. EBER in situ hybridization was also all negative. FISH analyses using C-MYC, bcl-2 and bcl-6 break-apart probes were all negative. All cases had the 11q23.3 gain/11q24.3 loss pattern, and 11q23.3 amplification was found in one case. IgH and IRF4 break-apart probes analysis was also negative. All patients were alive with no disease after a follow-up of 4 to 19 months. Conclusion: BLL-11q is a rare lymphoma that resembles Burkitt lymphoma morphologically and phenotypically, but lacks C-MYC gene rearrangements. Instead, it has a chromosome-11q alteration characterized by proximal gains and telomeric losses. It's necessary to improve our understanding of BLL-11q to avoid misdiagnosis and missed diagnosis.
目的： 探讨具有11号染色体长臂异常的Burkitt样淋巴瘤（Burkitt-like lymphoma with 11q aberration，BLL-11q）的临床病理、分子遗传学特征及治疗和预后。 方法： 收集郑州大学第一附属医院2016年1月至2020年1月诊断的6例BLL-11q，进行HE染色、免疫组织化学、EBER原位杂交及荧光原位杂交检测，观察其组织学形态、免疫表型及分子遗传学特征，分析临床信息并进行随访。 结果： 6例BLL-11q患者免疫功能均正常，男性5例，女性1例，年龄20~38岁，中位年龄29岁。6例均发生于淋巴结，且均位于头颈部。Ann Arbor分期5例为Ⅰ~Ⅱ期，1例为Ⅳ期。淋巴结结构大部分或全部破坏，肿瘤细胞弥漫性增生浸润，其中4例类似Burkitt淋巴瘤，2例形态介于Burkitt淋巴瘤和弥漫性大B细胞淋巴瘤之间不能分类，核分裂象多见，凋亡及坏死明显，5例可见“星空”现象。肿瘤细胞均弥漫性强表达CD20、CD10及bcl-6，Ki-67阳性指数均>95%，1例CD21染色可见滤泡树突状细胞（FDC）网。不同程度的表达C-MYC。CD3、bcl-2、MUM1、CD30、末端脱氧核苷酸转移酶（TdT）均为阴性。EBER原位杂交检测均为阴性。荧光原位杂交（FISH）检测C-MYC、bcl-2、bcl-6分离均为阴性，11q23.3获得伴11q24.3丢失均为阳性，其中1例出现11q23.3的扩增。同时，本组病例进行了IgH及IRF4基因分离探针的检测，6例病例均为阴性。随访时间4~19个月，均无病生存。 结论： BLL-11q是一种少见的淋巴瘤，形态及免疫表型类似Burkitt淋巴瘤，但缺乏MYC基因重排，存在特征性的11q异常，应提高对该病变的认识，避免误诊和漏诊。.