目的:随着分子遗传学在颅内肿瘤诊断中的作用日益增强,为此类分析提供足够的代表性组织是至关重要的。本研究探讨了基于帧的立体定向颅内病变活检后的成功诊断率。
方法:本回顾性分析包括2020年和2021年连续接受基于框架的立体定向活检的患者。病例分为三组:结论性,缺失分子遗传学(MG)数据的诊断,和不确定的神经病理学诊断。
结果:在145名患者中,在n=137例(94.5%)中,有可能做出结论性诊断。对于3例(2.0%),根据缺失的MG数据建立诊断.5例(3.5%),一个不确定的(肿瘤)诊断被满足。诊断主要包括WHO4级胶质母细胞瘤(n=73,56%),中枢神经系统淋巴瘤(n=23,16%),炎症性疾病(n=14,10%),和转移(n=5,3%)。在49%(n=44)的肿瘤病例中应用了甲基组学(n=28,30%的肿瘤)。用于MG诊断的样本的平均数为5,而提供的样本的平均数为15。在单变量分析中,DNA不足与不确定的诊断或MG数据缺失的诊断相关(p<0.001).对MG数据缺失或诊断不确定的病例的计划和实施轨迹的分析(n=8)表明,几乎所有病例(n=7)都达到了感兴趣的区域。
结论:尽管基于立体定向框架的活检组织数量有限,它们具有很高的组织病理学和分子遗传学诊断产量。鉴于计划活检轨迹的手术精度,优化调查的病变区域有助于提高确诊率.
With the increasing role of molecular genetics in the diagnostics of intracranial tumors, delivering sufficient representative tissue for such analyses is of paramount importance. This
study explored the rate of successful diagnosis after frame-based stereotactic biopsies of intracranial lesions.
Consecutive patients undergoing frame-based stereotactic biopsies in 2020 and 2021 were included in this retrospective analysis. Cases were classified into three groups: conclusive, diagnosis with missing molecular genetics (MG) data, and inconclusive neuropathological diagnosis.
Of 145 patients, a conclusive diagnosis was possible in n = 137 cases (94.5%). For 3 cases (2.0%), diagnosis was established with missing MG data. In 5 cases (3.5%), an inconclusive (tumor) diagnosis was met. Diagnoses comprised mainly WHO 4 glioblastomas (n = 73, 56%), CNS lymphomas (n = 23, 16%), inflammatory diseases (n = 14, 10%), and metastases (n = 5, 3%). Methylomics were applied in 49% (n = 44) of tumor cases (panel sequencing in n = 28, 30% of tumors). The average number of specimens used for MG diagnostics was 5, while the average number of specimens provided was 15. In a univariate analysis, insufficient DNA was associated with an inconclusive diagnosis or a diagnosis with missing MG data (p < 0.001). Analyses of planned and implemented trajectories of cases with diagnosis with missing MG data or inconclusive diagnosis (n = 8) revealed that regions of interest were reached in almost all cases (n = 7).
Although stereotactic frame-based biopsies deliver a limited amount of tissue, they bear high histopathological and molecular genetic diagnostic yields. Given the proven surgical precision of the planned biopsy trajectories, optimizing surveyed lesion regions could help improve the rate of conclusive diagnoses.