【摘要】 目的 观察滤泡性淋巴瘤（FL）发生弥漫大B细胞淋巴瘤（DLBCL）转化患者的临床、病理、基因特征及远期预后。方法 2010年1月—2024年12月河南省人民医院诊治FL患者209例，其中发生DLBCL转化34例为转化组，未发生DLBCL转化的FL3A级患者34例为未转化组。记录2组患者初诊时临床特征、病理分级、免疫组织化学检查及基因检测结果；所有患者治疗6～8个疗程后进行疗效评价，比较2组客观缓解率；随访截至2025年4月30日，记录患者病情进展和生存情况，记录总生存期（OS）和无进展生存期（PFS），绘制Kaplan-Meier生存曲线，比较2组3、5年OS率和PFS率。结果 209例FL患者中DLBCL转化发生率为16.3%。转化组中初诊伴DLBCL转化26例，24例初诊时进行FL病理分级，其中3级21例，1～2级2例，2级伴部分3B级1例；进展后发生DLBCL转化8例，其中转化前3级4例，2级2例，2级与3A级混合1例，未分级1例。转化组血红蛋白<120g/L、CD21阴性、CD30阳性、Ki-67≥50%占比（67.6%、26.9%、68.4%、76.5%）均高于未转化组（35.3%、3.2%、28.6%、51.6%）（χ~2=4.382～6.581,P均<0.05）。6例患者基因检测结果显示，转化前KMT2D、FAS、HIST1H1E突变率较高，转化后KMT2D、TP53、BCL-10、BCL-6、SOCS1、IGLL5突变率较高。转化组客观缓解率、3年OS率、5年OS率、3年PFS率、5年PFS率与未转化组比较差异均无统计学意义（χ~2=0.028～2.565,P均>0.05）。结论 贫血、免疫组织化学检查CD21阴性、CD30阳性、Ki-67≥50%及病理分级3级的FL患者易转化为DLBCL，转化前与转化后基因突变不同；DLBCL转化不影响FL患者疗效及远期预后。更多还原

【Abstract】 Objective To investigate the clinical,pathological and genetic features,as well as the long-term prognosis of patients with follicular lymphoma(FL)undergoing transformation to diffuse large B-cell lymphoma(DLBCL).Methods In 209 FL patients diagnosed and treated at Henan Provincial People,s Hospital from January 2010 to December2024,34 patients developed DLBCL transformation(transformation group),and another 34 FL grade 3A patients without DLBCL transformation were selected as the non-transformation group.Clinical characteristics,pathological grading,immunohistochemical results,and genetic testing findings at initial diagnosis were collected in both groups.The efficacy was evaluated after 6-8 cycles of therapy,and the objective response rate was compared between the two groups.Patients were followed up until April 30,2025,to document disease progression and survival outcomes.Overall survival(OS)and progression-free survival(PFS)were recorded.Kaplan-Meier survival curves were generated,and the 3-year and 5-year OS and PFS rates were compared between the two groups.Results The incidence of DLBCL transformation was 16.3% in 209 FL patients.In the transformation group,26 patients presented with transformation at initial diagnosis,and 24 patients underwent pathological grading at initial diagnosis including 21 patients of grade 3,2 of grade1-2,and 1 of grade 2 with focal grade 3B;another 8 patients experienced transformation after disease progression,including 4 patients of grade 3,2 of grade 2,1 of mixed grade 2 and 3A,and 1 unclassified case prior to transformation.The transformation group exhibited significantly higher proportions of hemoglobin <120g/L(67.6% vs.35.3%),CD21 negativity(26.9% vs.3.2%),CD30 positivity(68.4% vs.28.6%),and Ki-67 ≥50%(76.5% vs.51.6%)compared with the non-transformation group （χ~2=4.382-6.581,all P<0.05）.Genetic testing of 6 patients showed higher mutation rates in KMT2D,FAS,and HIST1H1E before transformation,and KMT2D,TP53,BCL-10,BCL-6,SOCS1,and IGLL5 after transformation.The objective response rate,3-and 5-year OS rates,and 3-and 5-year PFS rates showed no statistically significant differences between the transformation group and the non-transformation group(P>0.05).Conclusions FL patients with anemia,CD21 negativity,CD30 positivity,Ki-67 ≥50%,and pathological grade 3 are more prone to transform to DLBCL.Distinct patterns of gene mutations are observed before and after transformation.DLBCL transformation does not impact the treatment efficacy and long-term prognosis of FL patients.更多还原