Utility of SHOX2 and RASSF1A gene methylation detection on the residual cytology material from endobronchial ultrasound-guided transbronchial needle aspiration.

IF 2.5 4区医学 Q2 PATHOLOGY

Cytojournal Pub Date : 2024-05-28 eCollection Date: 2024-01-01 DOI:10.25259/Cytojournal_114_2023

Zhihua Lan, Jing Zhang, Fang Yang, Xin Ma, Rongfang He

{"title":"Utility of SHOX2 and RASSF1A gene methylation detection on the residual cytology material from endobronchial ultrasound-guided transbronchial needle aspiration.","authors":"Zhihua Lan, Jing Zhang, Fang Yang, Xin Ma, Rongfang He","doi":"10.25259/Cytojournal_114_2023","DOIUrl":null,"url":null,"abstract":"Objective: This study aims to assess the effectiveness of Short Stature Homeobox 2 (SHOX2) and RAS Association Domain Family 1 Isoform A (RASSF1A) gene methylation detection in residual liquid-based cytology (LBC) materials from Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) and investigate the diagnostic accuracy of a comprehensive diagnostic approach.Material and methods: Between June 2022 and May 2023, a total of 110 cases that underwent EBUS-TBNA were enrolled in the study. SHOX2 and RASSF1A genes methylation detection using the residual cytological material, LBC, and cell block (CB) were conducted for each EBUS-TBNA case. The sensitivity and specificity of cytology, CB histopathology, SHOX2, and RASSF1A methylation in diagnosing EBUS-TBNA samples were determined based on follow-up data.Results: Among the 72 cases confirmed as pulmonary carcinomas, the methylation test yielded positive results in 24 adenocarcinoma cases, 10 squamous cell carcinoma cases, and 14 small cell carcinoma cases. The sensitivity of the comprehensive diagnosis (combining LBC, CB, and methylation detection) in distinguishing metastatic pulmonary epithelial malignancies in mediastinal and hilar lymph nodes or masses from benign lesions was higher (97.22%, 70/72) than that of morphological diagnosis alone (LBC and CB) (88.89%, 64/72; P < 0.05).Conclusion: SHOX2 and RASSF1A methylation detection demonstrates a high sensitivity and negative predictive value in the identification of pulmonary epithelial malignancies and holds promise as a valuable ancillary approach to enhance morphological diagnosis of EBUS-TBNA.","PeriodicalId":49082,"journal":{"name":"Cytojournal","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11181472/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cytojournal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.25259/Cytojournal_114_2023","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: This study aims to assess the effectiveness of Short Stature Homeobox 2 (SHOX2) and RAS Association Domain Family 1 Isoform A (RASSF1A) gene methylation detection in residual liquid-based cytology (LBC) materials from Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) and investigate the diagnostic accuracy of a comprehensive diagnostic approach.

Material and methods: Between June 2022 and May 2023, a total of 110 cases that underwent EBUS-TBNA were enrolled in the study. SHOX2 and RASSF1A genes methylation detection using the residual cytological material, LBC, and cell block (CB) were conducted for each EBUS-TBNA case. The sensitivity and specificity of cytology, CB histopathology, SHOX2, and RASSF1A methylation in diagnosing EBUS-TBNA samples were determined based on follow-up data.

Results: Among the 72 cases confirmed as pulmonary carcinomas, the methylation test yielded positive results in 24 adenocarcinoma cases, 10 squamous cell carcinoma cases, and 14 small cell carcinoma cases. The sensitivity of the comprehensive diagnosis (combining LBC, CB, and methylation detection) in distinguishing metastatic pulmonary epithelial malignancies in mediastinal and hilar lymph nodes or masses from benign lesions was higher (97.22%, 70/72) than that of morphological diagnosis alone (LBC and CB) (88.89%, 64/72; P < 0.05).

Conclusion: SHOX2 and RASSF1A methylation detection demonstrates a high sensitivity and negative predictive value in the identification of pulmonary epithelial malignancies and holds promise as a valuable ancillary approach to enhance morphological diagnosis of EBUS-TBNA.

查看原文本刊更多论文

支气管内超声引导下经支气管针吸术残留细胞学材料的 SHOX2 和 RASSF1A 基因甲基化检测的实用性。

研究目的本研究旨在评估支气管内超声引导下经支气管针吸术（EBUS-TBNA）残留液基细胞学（LBC）材料中短身材同源染色体2（SHOX2）和RAS关联域家族1同工酶A（RASSF1A）基因甲基化检测的有效性，并探讨综合诊断方法的诊断准确性：在2022年6月至2023年5月期间，共有110例接受EBUS-TBNA的病例被纳入研究。对每个 EBUS-TBNA 病例使用残留细胞学材料、LBC 和细胞块（CB）进行 SHOX2 和 RASSF1A 基因甲基化检测。根据随访数据确定细胞学、CB 组织病理学、SHOX2 和 RASSF1A 甲基化在诊断 EBUS-TBNA 样本中的敏感性和特异性：结果：在 72 例确诊为肺癌的病例中，甲基化检测结果呈阳性的有 24 例腺癌、10 例鳞状细胞癌和 14 例小细胞癌。综合诊断（结合 LBC、CB 和甲基化检测）在区分纵隔和肺门淋巴结或肿块中转移性肺上皮恶性肿瘤与良性病变方面的灵敏度（97.22%，70/72）高于单纯形态学诊断（LBC 和 CB）（88.89%，64/72；P <0.05）：SHOX2和RASSF1A甲基化检测在肺上皮恶性肿瘤的鉴别中显示出较高的灵敏度和阴性预测价值，有望成为加强EBUS-TBNA形态学诊断的一种有价值的辅助方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Cytojournal PATHOLOGY-

CiteScore

2.20

自引率

42.10%

发文量

审稿时长

>12 weeks

期刊介绍： The CytoJournal is an open-access peer-reviewed journal committed to publishing high-quality articles in the field of Diagnostic Cytopathology including Molecular aspects. The journal is owned by the Cytopathology Foundation and published by the Scientific Scholar.