Objective To evaluate the diagnostic value of endoscopic ultrasonography (EUS ) combined with detection of immunoglobulin (Ig ) and T‐cell receptor (TCR ) gene rearrangements in primary gastrointestinal lymphoma (PGIL) .Methods From 12nd January ,2012 to 23rd May ,2014 ,the clinical data of 24 patients with suspicious PGIL under endoscopy (regular biopsy negative and without treatment) and underwent further EUS examination was retrospectively analyzed .All patients received EUS‐guided biopsy or EUS‐guided fine needle aspiration (FNA) and the tissue specimens were detected for Ig and TCR gene rearrangements .Considering biopsy result ,surgical pathological diagnosis and follow‐up result as gold standard ,the clinical significance of sensitivity ,specificity ,positive predictive value (PPV) , negative predictive value (NPV ) and accuracy of EUS combined with Ig /TCR gene rearrangements in PGIL were explored .Results Among 24 patients ,19 patients were finally diagnosed as PGIL ,which were all non‐Hodgkin′s lymphoma (NHL ) ;monoclonal gene rearrangement was found in 13 cases of the 19 cases .The left five cases were not lymphoma lesions (three cases of gastritis ,one case of leather stomach and one case of malignant melanoma) with no monoclonal gene rearrangement .In cases diagnosed as PGIL , 14 were B cell NHL ,which included eight cases of muscosa‐associated lymphoid tissue (MALT) lymphoma and six cases of diffuse large B cell lymphoma .Of which ,immunoglobulin heavy chain (IgH)/immunoglobulin kappa (IgK) gene rearrangement was found in 11 cases .A total of five cases were T cell NHL including one case of anaplastic large cell lymphoma , one case of NK /T cell lymphoma and three cases of enteropathy‐associated T‐cell lymphomas . TCR gene rearrangement was found in two cases .Because theoretically ,there was no gene rearrangement in natural killer (NK )/T cell lymphoma ,so NK /T cell lymphoma was excluded from statistical analysis .The sensitivity ,specificity ,PPV ,NPV and accuracy of EUS combined with Ig /TCR gene rearrangements detection in PGIL were 72 .2% ,100 .0% ,100 .0% , 50 .0% and 78 .3% ,respectively .Conclusion The detection of monoclonal gene rearrangement in tissues from EUS‐guided biopsy or EUS‐guided FNA had better diagnostic value in PGIL ,which improved the objectivity and accuracy of lymphoma diagnosis .%目的：评价超声内镜联合免疫球蛋白（Ig）／T 细胞受体（TCR）基因重排检测对原发性胃肠淋巴瘤（PGIL）的诊断价值。方法回顾性分析2012年1月12日至2014年5月23日24例因内镜下疑似 PGIL（常规活组织检查阴性且尚未治疗）患者，进一步行超声内镜检查明确诊断。全部患者在超声内镜引导下深挖取活组织检查或行细针穿刺术，获取的组织标本进行 Ig／TCR 基因重排检测。以活组织、手术病理诊断或随访结果为金标准，探讨超声内镜联合 Ig／TCR 基因重排检测对 PGIL 诊断的敏感度、特异度、阳性预测值、阴性预测值、准确度等。结果24例患者中，19例最终确诊为PGIL ，均为非霍奇金淋巴瘤（NHL），其中13例发现单克隆性基因重排；其余5例为非淋巴瘤病变[胃炎性病变3例、Borrmann Ⅳ型胃癌（皮革胃）1例、黑色素瘤1例]，均未发现单克隆性基因重排。确诊为 PGIL 的病例中14例为 B 细胞 NHL ，包括8例 MALT 淋巴瘤和6例弥漫性大 B 细胞型淋巴瘤，其中11例发现免疫球蛋白重链（IgH）／免疫球蛋白κ轻链（IgK）基因重排。 T 细胞型 NHL 共5例，其中间变性大细胞淋巴瘤、NK ／T 细胞淋巴瘤各1例，肠病相关性 T 细胞淋巴瘤3例，发现 TCR 基因重排2例。因 NK ／T 细胞淋巴瘤理论上无基因重排，故未列入统计，超声内镜联合 Ig／TCR 基因重排检测对 PGIL 诊断的敏感度、特异度、阳性预测值、阴性预测值、准确度分别为72．2％、100．0％、100．0％、50．0％、78．3％。结论超声内镜引导下深取活组织检查及细针穿刺获取组织标本，检测克隆性基因重排对 PGIL 有较好的诊断价值，提高了淋巴瘤诊断的客观性与准确性。
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