摘要目的 探讨具第11号染色体长臂(11q)异常的Burkitt样淋巴瘤的临床病理特征、诊断及预后.方法 通过对北京友谊医院2016年11月收集的1例具11q异常的Burkitt样淋巴瘤进行HE形态学、免疫组织化学染色、EB病毒原位杂交、基因重排、荧光原位杂交(FISH)检测的观察,结合文献,总结该肿瘤的临床、病理、分子遗传学特征及其预后.结果 患者男,38岁,无诱因右颈部淋巴结肿大,生长迅速,切除送检.病理形态学具Burkitt淋巴瘤特征,均匀中等大淋巴样细胞弥漫浸润,并形成"星空现象".免疫组织化学染色:肿瘤细胞呈CD20、CD10、bcl-6阳性,bcl-2阴性,MUM1部分弱阳性.Ki-67阳性指数大于95%,C-MYC约50%细胞阳性,EBER阴性.免疫球蛋白基因重排检测呈IgH和IgK克隆性重排.FISH检测MYC基因断裂阴性,但出现位于11q染色体的ATM基因扩增.患者未经化疗及放疗,随访10个月未见复发.结论 具11q异常的Burkitt样淋巴瘤具有与Burkitt淋巴瘤几乎一样的临床、病理形态特征,但无MYC基因重排,而是具有特征性的第11号染色体长臂的异常,可能具有更好的预后.

abstractsObjective To analyze clinical, pathological, molecular and genetic characteristics of Burkitt-like lymphoma with chromosome 11q aberration. Methods A case of Burkitt-like lymphoma with 11q aberration was presented at Beijing Friendship Hospital in November 2016 with detailed clinicopathological features, immunophenotypes, Epstein-Barr virus(EBV)status and molecular genetic characteristics. Results The patient was a 38-year-old man presenting with the cervical lymphadenopathy. In morphology,the tumor had the similar characteristics of Burkitt lymphoma,including diffuse infiltration of medium to large lymphoid cells, and presence of"starry sky"phenomenon. Immunophenotypically, the tumor cells were positive for CD20,CD10,bcl-6,but negative for bcl-2. MUM-1 showed weak and patchy positivity. Ki-67 index was more than 95%. C-MYC expression was seen in about 50% of tumor cells. EBV in situ hybridization was negative. IgH and IgK genes were clonally rearranged.Fluorescence in situ hybrization detection using MYC break probe was negative but ATM gene amplification on chromosome 11q was detected. The patient did not receive any chemotherapy or radiotherapy and had not recurrence during the 10 months follow-up. Conclusion Burkitt-like lymphoma with chromosome 11q aberration has similar clinical,morphological and immunological characteristics to classic Burkitt′s lymphoma.