5例十二指肠型滤泡性淋巴瘤临床病理学研究-东南大学学报医学版

5例十二指肠型滤泡性淋巴瘤临床病理学研究

单位：1. 南京市浦口人民医院病理科, 江苏南京 211800;
2. 江苏省肿瘤医院病理科, 江苏南京 210009

分类号：R446.8

出版年·卷·期（页码）：2024·43·第四期（599-604）

摘要：

目的: 研究十二指肠型滤泡性淋巴瘤(duodenal-type follicular lymphoma,D-FL)的临床病理学特征。方法: 分析5例D-FL的消化内镜、病理形态学、免疫组化、荧光原位杂交及二代测序检测结果。结果: 5例D-FL内镜检查呈多发性结节状或息肉样病变。显微镜下,肿瘤性滤泡位于黏膜和黏膜下层,套区消失,肿瘤细胞浸润至滤泡外黏膜固有层。肿瘤性滤泡几乎全部由中心细胞组成,中心母细胞罕见。免疫组化染色显示,肿瘤细胞表达CD20、BCL2、CD10,Ki-67增殖指数小于5%。CD21染色显示滤泡树突细胞网定位于滤泡的边缘。荧光原位杂交检测显示,5例患者均有t(14;18)(q32;q21)染色体异位。二代测序发现,CCL20、MADCAM1、CCR6、PCDHGA3、PCDHGA8、PCDHGB4等特征性基因存在突变。结论: D-FL是独特的滤泡性淋巴瘤亚型,临床、病理形态学、免疫表型、分子遗传学均有别于淋巴结经典型滤泡性淋巴瘤,为惰性淋巴瘤,其预后良好。

Objective: To elucidate the clinicopathological characteristics in duodenal-type follicular lymphoma(D-FL). Methods: The endoscopy, pathomorphology, immunohistochemistry, fluorescence in situ hybridization(FISH), next generation sequencing(NGS) features of 5 patients with D-FL were analyzed. Results: The lesions appeared as multiple nodules or polypoid lesions by endoscopic findings. Microscopically, the lesions demonstrated neoplastic follicles without mantle zones in the mucosa and submucosa. The neoplastic cells also infiltrated the lamina propria outside of the follicles. The neoplastic follicles were composed almost uniformly of centrocytes and only infrequent centroblasts. Immunohistochemically, the neoplastic cells typically expressed CD20, BCL2 and CD10. The Ki-67 proliferation index was less than 5%. CD21 stain revealed that the follicular dendritic mesh work was located in the peripheral part of the follicles. The t(14;18)(q32;q21) translocation was found by FISH in the 5 cases. Characteristic genetic mutations including CCL20, MADCAM1, CCR6, PCDHGA3, PCDHGA8, PCDHGB4 genes were detected by NGS. Conclusion: D-FL is a unique subtype of follicular lymphoma. Its clinical, pathomorphology, immunophenotype, and molecular genetics are different from nodal classic follicular lymphoma. D-FL is an indolent lymphoma with a good prognosis.

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