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分析细针穿刺细胞学检查中淋巴结病变的漏诊恶性肿瘤。

Analysis of Under-Diagnosed Malignancy during Fine Needle Aspiration Cytology of Lymphadenopathies.

机构信息

Division of Radiation Biomedical Research, Korea Institute of Radiological and Medical Sciences, Seoul 01812, Republic of Korea.

Department of Pathology, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul 01812, Republic of Korea.

出版信息

Int J Mol Sci. 2023 Aug 3;24(15):12394. doi: 10.3390/ijms241512394.

Abstract

Fine needle aspiration cytology (FNAC) is a useful tool in the evaluation of lymphadenopathy. It is a safe and minimally invasive procedure that provides preoperative details for subsequent treatment. It can also diagnose the majority of malignant tumors. However, there are some instances where the diagnosis of tumors remains obscure. To address this, we re-analyzed the misinterpreted patients' samples using mRNA sequencing technology and then identified the characteristics of non-Hodgkin's lymphoma that tend to be under-diagnosed. To decipher the involved genes and pathways, we used bioinformatic and biological analysis approaches, identifying the response to oxygen species, inositol phosphate metabolic processes, and peroxisome and PPAR pathways as possibly being involved with this type of tumor. Notably, these analyses identified FOS, ENDOG, and PRKAR2B as hub genes. cBioPortal, a multidimensional cancer genomics database, also confirmed that these genes were associated with lymphoma patients. These results thus point to candidate genes that could be used as biomarkers to minimize the false-negative rate of FNAC diagnosis. We are currently pursuing the development of a gene chip to improve the diagnosis of lymphadenopathy patients with the ultimate goal of improving their prognosis.

摘要

细针穿刺细胞学检查(FNAC)是评估淋巴结疾病的有用工具。它是一种安全、微创的程序,可为后续治疗提供术前详细信息。它还可以诊断大多数恶性肿瘤。然而,有些情况下肿瘤的诊断仍然不清楚。为了解决这个问题,我们使用 mRNA 测序技术重新分析了被误诊的患者样本,然后确定了倾向于被误诊的非霍奇金淋巴瘤的特征。为了解码涉及的基因和途径,我们使用了生物信息学和生物学分析方法,确定了与这种肿瘤可能相关的对氧物质的反应、肌醇磷酸盐代谢过程以及过氧化物酶体和 PPAR 途径。值得注意的是,这些分析确定了 FOS、ENDOG 和 PRKAR2B 作为枢纽基因。多维癌症基因组学数据库 cBioPortal 也证实了这些基因与淋巴瘤患者有关。这些结果表明候选基因可以用作生物标志物,以最大程度地降低 FNAC 诊断的假阴性率。我们目前正在开发基因芯片,以提高对淋巴结疾病患者的诊断,最终目标是改善他们的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9192/10418811/40dd10d296bf/ijms-24-12394-g001.jpg

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