结外边缘区淋巴瘤(EMZL)是一种来源于边缘区B细胞并与慢性炎症有关的缀合粘膜淋巴组织的慢性淋巴瘤。根据原发结外部位的不同，EMZL表现出不同的基因组变异，但通常影响NF-κB、B细胞受体和NOTCH等信号通路。放射治疗通常用于局限性疾病的治疗，多种药物可用于需要治疗的晚期疾病患者。苯达莫司汀联合利妥昔单抗是与更高疗效相关的前线治疗方案。临床特征、诊断、基因组，模型实现风险分层、治疗选择和未来方向。 EMZL缺乏一致的基因分型概况，这妨碍了组织和循环生物标志物的开发，以用于诊断、风险分层和监测最小残留病。此外，结外部位上的生物异质性与整体基因组数据的相对有限性，阻止了针对可药物靶标的通路进行个体化治疗的测试。未来的临床试验应该侧重于EMZL，考虑到在试验资格条件和评估反应方面的独特临床特征，以更好地了解新药的疗效并勾勒出治疗顺序。

Extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue is an indolent lymphoma originating from marginal zone B-cells and associated with chronic inflammation. EMZL demonstrates distinct genomic alterations according to the primary extranodal site of disease but commonly affects signaling pathways including NF-ĸB, B-cell receptor, and NOTCH. Treatment with radiation therapy is commonly implemented in localized disease and multiple agents are available for patients with advanced stage disease in need of therapy. Bendamustine with rituximab is the frontline platform associated with higher efficacy.Clinical features, diagnosis, genomics, models enabling risk stratification, treatment options, and future directions.The lack of consistent genotyping profile in EMZL precludes the development of tissue and circulatory biomarkers for the diagnosis, risk stratification and monitoring of minimal residual disease. Furthermore, the biological heterogeneity observed in extranodal sites associated with overall limited genomic data prevents the testing of druggable pathways aiming for a personalized treatment approach. Future clinical trials should focus on EMZL considering the unique clinical characteristics in the eligibility criteria and response assessment to better inform efficacy of novel agents and delineate sequence of therapies.