间变型弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是一种罕见的非特指型DLBCL,组织形态学常为窦性或者弥漫生长。该文报道1例,其左侧腋窝淋巴结具有大量多形性的中心母细胞样伴间变特征的细胞和HRS样细胞呈结节状或滤泡...
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间变型弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是一种罕见的非特指型DLBCL,组织形态学常为窦性或者弥漫生长。该文报道1例,其左侧腋窝淋巴结具有大量多形性的中心母细胞样伴间变特征的细胞和HRS样细胞呈结节状或滤泡生发中心样生长,符合DLBCL,非特殊类型,间变型。结合相关文献探讨其临床病理学及分子遗传学特征,以提高临床和病理医师对该肿瘤的认识。
目的:探究中国西南地区肺癌患者肿瘤易感基因胚系突变与体细胞突变特点及其临床病理特征。方法:回顾性分析重庆医科大学附属第一医院2019年1月至2022年12月收治的1198例肺癌患者的胚系基因测序数据,根据美国医学遗传学与基因组学学会遗传突变分类标准指南、Clinvar数据库和Intervar数据库评估突变的致病性。比较携带基因致病性或可能致病性胚系突变(pathogenic/likely pathogenic, P/LP)患者与未携带基因致病性或可能致病性胚系突变患者的临床病理特征及体细胞突变特点。结果:1198例肺癌患者中,108例(9.02%)患者纳入P/LP+组,其中BRCA2基因突变10例,ATM基因突变8例,NOTCH3基因突变6例,FANCM基因突变5例,有56例患者伴发有EGFR体细胞突变,5例患者伴发有ALK体细胞突变;1090例(90.98%)患者纳入P/LP−组。与P/LP−组比较,P/LP+组患者临床分期多处于晚期(P 0.05)。P/LP+组与P/LP−组在体细胞突变上差异无统计学意义(P > 0.05)。结论:中国西南地区肺癌患者中致病性或可能致病性胚系突变发生率约为9%,携带有P/LP胚系突变的患者临床分期多为晚期,肺癌中P/LP胚系突变与驱动基因突变间未发现相关性。Objective: To examine the characteristics of germline and somatic mutations in tumor susceptibility genes among lung cancer patients in Southwest China, and to analyze their associations with clinicopathological features. Methods: This retrospective study analyzed germline gene sequencing data from 1198 lung cancer patients treated at The First Affiliated Hospital of Chongqing Medical University between January 2019 and December 2022. The pathogenicity of mutations was assessed according to the guidelines of the American College of Medical Genetics and Genomics (ACMG), as well as data from the Clinvar and Intervar databases. Clinicopathological characteristics and somatic mutation profiles were compared between patients with pathogenic or likely pathogenic germline mutations (P/LP group) and those without such mutations (non-P/LP group). Results: Of the 1198 lung cancer patients, 108 (9.02%) were classified into the P/LP+ group, with mutations identified in BRCA2 (10 cases), ATM (8 cases), NOTCH3 (6 cases), and FANCM (5 cases). Additionally, 56 patients in the P/LP+ group harbored concurrent EGFR somatic mutations, and 5 had concurrent ALK somatic mutations. The remaining 1090 patients (90.98%) were categorized into the non-P/LP− group. Compared with the non-P/LP− group, patients in the P/LP+ group were more likely to be diagnosed at an advanced clinical stage (P 0.05). Somatic mutation profiles did not differ significan
肺结节是早期肺癌的一种表现,检出率逐年增高,早期诊断依赖于多种影像学,由于假阳性率高而无法精准评估,存在过度诊断。液体活检通过非侵入式方法对外周血中循环肿瘤细胞、DNA甲基化及非编码RNA进行检测,具有较高灵敏度和特异性,逐渐成为肿瘤精准医疗领域强有力的诊断依据。本文就液体活检及其联合临床影像学在良恶性肺结节诊断中的研究进展进行综述。Pulmonary nodules are a manifestation of early-stage lung cancer, with detection rates increasing year by year. Early diagnosis relies on various imaging techniques, but the high rate of false positives makes it difficult to assess accurately, leading to overdiagnosis. Liquid biopsy, a non-invasive method, detects circulating tumor cells, DNA methylation, and non-coding RNA in peripheral blood with high sensitivity and specificity, gradually becoming a powerful diagnostic basis in the field of precision oncology. This article reviews the research progress of liquid biopsy and its combination with clinical imaging in the diagnosis of benign and malignant pulmonary nodules.
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