CAJ | 학술논문

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。
목적：평개초성내경연합면역구단백（Ig）／T 세포수체（TCR）기인중배검측대원발성위장림파류（PGIL）적진단개치。방법회고성분석2012년1월12일지2014년5월23일24례인내경하의사 PGIL（상규활조직검사음성차상미치료）환자，진일보행초성내경검사명학진단。전부환자재초성내경인도하심알취활조직검사혹행세침천자술，획취적조직표본진행 Ig／TCR 기인중배검측。이활조직、수술병리진단혹수방결과위금표준，탐토초성내경연합 Ig／TCR 기인중배검측대 PGIL 진단적민감도、특이도、양성예측치、음성예측치、준학도등。결과24례환자중，19례최종학진위PGIL ，균위비곽기금림파류（NHL），기중13례발현단극륭성기인중배；기여5례위비림파류병변[위염성병변3례、Borrmann Ⅳ형위암（피혁위）1례、흑색소류1례]，균미발현단극륭성기인중배。학진위 PGIL 적병례중14례위 B 세포 NHL ，포괄8례 MALT 림파류화6례미만성대 B 세포형림파류，기중11례발현면역구단백중련（IgH）／면역구단백κ경련（IgK）기인중배。 T 세포형 NHL 공5례，기중간변성대세포림파류、NK ／T 세포림파류각1례，장병상관성 T 세포림파류3례，발현 TCR 기인중배2례。인 NK ／T 세포림파류이론상무기인중배，고미렬입통계，초성내경연합 Ig／TCR 기인중배검측대 PGIL 진단적민감도、특이도、양성예측치、음성예측치、준학도분별위72．2％、100．0％、100．0％、50．0％、78．3％。결론초성내경인도하심취활조직검사급세침천자획취조직표본，검측극륭성기인중배대 PGIL 유교호적진단개치，제고료림파류진단적객관성여준학성。
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 .