原发不同部位的弥漫性大B细胞淋巴瘤的基因变异谱系特点及预后差异
Mutation pattern and prognosis of diffuse large B cell lymphoma originated from different sites

张炜.原发不同部位的弥漫性大B细胞淋巴瘤的基因变异谱系特点及预后差异[J].内科急危重症杂志,2021,27(2):112-116

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DOI：10.11768/nkjwzzzz20210206

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基金项目:国家自然科学基金面上项目（No.81770211）

作者	单位	E-mail
张炜	华中科技大学同济医学院附属同济医院	xiaomin@tjh.tjmu.edu.cn

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中文摘要:

目的：探讨原发于不同部位的弥漫性大B细胞淋巴瘤（DLBCL）在基因变异谱系上的特点及其预后差异。方法：收集302例诊断为DLBCL患者的病理学资料，取活检的淋巴瘤组织进行靶向高通量测序及免疫荧光原位杂交检测，同时收集患者临床资料进行分析。结果：原发于不同部位的DLBCL在基因变异谱系上具有异质性。其中原发骨组织及乳腺DLBCL中MYC易位检出率显著高于其他部位DLBCL，原发脾脏及乳腺DLBCL中BCL6易位检出率显著高于其他部位DLBCL。绝大多数原发睾丸、中枢神经系统、玻璃体的DLBCL携带MYD88 L265P、CD79B、PIM1及IGLL5突变。原发皮肤组织DLBCL多携带MYD88 L265P、CD79B及ETV6突变。此外，原发纵隔DLBCL在基因突变谱系上与其他部位DLBCL存在显著差异。在常规治疗方案下，相比于原发结内、韦氏环、纵隔的DLBCL，原发于胃肠道、中枢神经系统、睾丸等结外部位的DLBCL患者具有更低的5年总体生存期。结论：原发于不同部位的DLBCL在基因变异谱系及预后上的差异体现了其发病机制的差异，有助于人们识别DLBCL新的分子生物学亚类，并可以指导临床中DLBCL患者更精准的治疗及预后评估。

英文摘要:

Objective: To study the mutational features and prognosis of diffuse large B-cell lymphoma (DLBCL) originated from different sites. Methods: The pathological data of 302 cases of DLBCL were collected. Lymphoma-associated targeted next-generation sequencing and fluorescence in situ hybridization study were performed on each sample. Results: DLBCL originated from different sites demonstrated heterogeneity in genetic features. MYC translocation was significantly commonly detected in DLBCL originated from the bone and breast. BCL6 translocation was more frequent in DLBCL originated from the spleen and breast. An overwhelming proportion of DLBCL originated from the testis, central nervous system, and vitreous body harbored MYD88 L265P, CD79B, PIM1, and IGLL5 mutations. Most primary cutaneous DLBCL carried MYD88 L265P, CD79B, and ETV6 mutations. In addition, primary mediastinal DLBCL had a distinct mutation pattern compared with other DLBCL cases. In terms of prognosis, patients with DLBCL originated from the gastrointestinal tract, central nervous system, and testis showed a significantly shorter 5-year overall survival than those with DLBCL originated from the lymph node, Waldeyer's ring, and mediastinum. Conclusion: The differences of genetic features and prognosis of DLBCL originated from different sites indicated the heterogeneity in pathogenesis, and provided novel insights in identifying potential distinct DLBCL entities, as well as individualized treatment and precise prognosis evaluation for patients with DLBCL.