儿童型滤泡性淋巴瘤9例临床病理及分子遗传学分析

目的探讨儿童型滤泡性淋巴瘤(paediatric-type follicular lymphoma,PTFL)的临床病理学特征,以提高对其的认识。方法收集2015年1月~2019年12月郑州大学第一附属医院病理科诊断的9例PTFL,对其病变组织行HE染色、免疫组化染色、PCR及FISH检测,对患者进行随访,并复习相关文献。结果9例PTFL患者均为男性,中位年龄15(8~34)岁,临床表现均为颈部淋巴结无痛性肿大,无发热、盗汗、消瘦等B症状。组织学表现为大的不规则的滤泡性结构,主要由中等大小比较一致的母细胞组成;肿瘤细胞表达B细胞标记及生发中心标记CD10、BCL-6,不表达或微弱表达BCL-2,均存在Ig基因单克隆性重排,但未见BCL-2、IRF4基因重排。所有患者均为Ⅰ~Ⅱ期,5例患者仅接受局部肿块切除治疗,1例患者术后接受R-CHOP方案化疗2周期,1例患者术后接受Hyper-CVAD方案化疗5周期。随访2~47个月,目前7例患者均无瘤生存,2例失访。结论PTFL是一种罕见的预后较好的B细胞性淋巴瘤,其发病部位、组织形态、免疫表型及分子遗传学具有独特的特征,应提高对其的认识,以避免漏诊、误诊及过度治疗。

Clinicopathological and molecular genetic analysis of 9 cases of paediatric-type follicular lymphoma

Purpose To investigate the clinicopathological features of paediatric-type follicular lymphoma(PTFL)in order to improve the awareness of it.Methods Nine cases of PTFL,diagnosed by the Department of Pathology of the First Affiliated Hospital of Zhengzhou University between January 2015 and December 2019 were collected and analyzed by hematoxylin-eosin stain,immunohistochemistry,PCR,and FISH.The patients were followed up and relevant literatures were also reviewed.Results All patients were male with age ranging from 8 to 34 years(median age of 15 years and average age of 18 years).Clinical manifestations included painless lymphadenopathy primarily involving head and neck lymph nodes with no fever,night sweats,emaciation or other systemic B symptoms.Pathological characteristics including expanding,irregular follicles mainly composed of uniform,medium-sized blastic cells were found.The neoplastic cells were positive for B cell markers and germinal center markers.BCL-2 was negative or weakly positive.Nine cases showed Ig clonal rearrangement but no BCL-2,IRF4 gene rearrangement.These PTFL patients were all in stageⅠ-Ⅱof the disease.5 cases were only treated with local surgical excision after diagnosis without receiving immunochemotherapy.One patient was treated with 2 cycles of R-CHOP and another patient with Hyper-CVAD for 5 cycles after surgical resection.After 2 to 47 months of follow-up,7 patients were living without disease and 2 were lost.Conclusion PTFL is a rare subtype of B-cell lymphoma with good prognosis.Its pathogenesis,histomorphology,immunophenotype and molecular genetics have unique features.It should be improved to avoid missed diagnosis,misdiagnosis and over-treatment.