Mohamed Smail Aissani MD, Kyrillos Mahrous Gerges MD, Ahmed Msherghi MD, Hajer Farrara MD, Dawood Alatefi MD, Imane Chenfouh MD, Arwi Omar Kara MBBCh, Maram Abuajamieh MBBCh, Ghada Kareem MBBCh, Mohammed Benhammou MD, Mohamed E. Ali MD, Max Wintermark MD, MAS, Muhammed Elhadi MBBCh, MSc
{"title":"SHOX2和RASSF1A基因甲基化检测在恶性胸腔积液中的诊断价值：一项系统综述和荟萃分析","authors":"Mohamed Smail Aissani MD, Kyrillos Mahrous Gerges MD, Ahmed Msherghi MD, Hajer Farrara MD, Dawood Alatefi MD, Imane Chenfouh MD, Arwi Omar Kara MBBCh, Maram Abuajamieh MBBCh, Ghada Kareem MBBCh, Mohammed Benhammou MD, Mohamed E. Ali MD, Max Wintermark MD, MAS, Muhammed Elhadi MBBCh, MSc","doi":"10.1002/cncy.70031","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Malignant pleural effusion (MPE) is a common complication of advanced malignancies, requiring differentiation from benign pleural effusion for appropriate management. Cytology and biopsy have limitations, necessitating more sensitive, less invasive diagnostic techniques. The objective of this study was to evaluate the diagnostic accuracy of methylated <i>SHOX2</i> (short-stature homeobox 2) and <i>RASSF1A</i> (Ras association domain family member 1A) genes in detecting MPE.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>A systematic review and meta-analysis included studies that compared benign pleural effusion and MPE cohorts using methylation of <i>SHOX2</i> and <i>RASSF1A</i> genes in pleural fluid as the index test and cytology/histopathology as the reference standard. A random-effects model was used to calculate sensitivity, specificity, predictive values, and diagnostic odds ratios. Subgroup analysis assessed performance in lung-predominant versus nonlung-predominant MPE.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Four studies with a total of 534 participants were included. The pooled sensitivity and specificity were 85% (95% confidence interval [CI], 53%–96%; heterogeneity [I<sup>2</sup>] = 0.00%) and 92% (95% CI, 88%–95%; I<sup>2</sup> = 24.8%), respectively. The positive and negative predictive values were 93% (95% CI, 85%–97%; I<sup>2</sup> = 61.5%) and 84% (95% CI, 53%–96%; I<sup>2</sup> = 0.00%), respectively. The diagnostic odds ratio was 22.78 (95% CI, 11.00–47.17; I<sup>2</sup> = 25.8%). Subgroup analysis showed a slight decrease in sensitivity (70%; 95% CI, 64%–76%; I<sup>2</sup> = 0.00%) and specificity (91%; 95% CI, 86%–94%; I<sup>2</sup> = 26.1%) when excluding the study with a lung cancer-predominant population.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>The combined analysis of <i>SHOX2</i> and <i>RASSF1A</i> methylation demonstrated promising diagnostic accuracy for MPE detection, outperforming cytology. This less invasive method could reduce reliance on more invasive procedures, although further research is needed to confirm its efficacy across diverse populations and cancer types.</p>\n </section>\n </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 8","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.70031","citationCount":"0","resultStr":"{\"title\":\"Diagnostic performance of SHOX2 and RASSF1A gene methylation assays in malignant pleural effusion: A systematic review and meta-analysis\",\"authors\":\"Mohamed Smail Aissani MD, Kyrillos Mahrous Gerges MD, Ahmed Msherghi MD, Hajer Farrara MD, Dawood Alatefi MD, Imane Chenfouh MD, Arwi Omar Kara MBBCh, Maram Abuajamieh MBBCh, Ghada Kareem MBBCh, Mohammed Benhammou MD, Mohamed E. Ali MD, Max Wintermark MD, MAS, Muhammed Elhadi MBBCh, MSc\",\"doi\":\"10.1002/cncy.70031\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>Malignant pleural effusion (MPE) is a common complication of advanced malignancies, requiring differentiation from benign pleural effusion for appropriate management. Cytology and biopsy have limitations, necessitating more sensitive, less invasive diagnostic techniques. The objective of this study was to evaluate the diagnostic accuracy of methylated <i>SHOX2</i> (short-stature homeobox 2) and <i>RASSF1A</i> (Ras association domain family member 1A) genes in detecting MPE.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>A systematic review and meta-analysis included studies that compared benign pleural effusion and MPE cohorts using methylation of <i>SHOX2</i> and <i>RASSF1A</i> genes in pleural fluid as the index test and cytology/histopathology as the reference standard. A random-effects model was used to calculate sensitivity, specificity, predictive values, and diagnostic odds ratios. Subgroup analysis assessed performance in lung-predominant versus nonlung-predominant MPE.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>Four studies with a total of 534 participants were included. The pooled sensitivity and specificity were 85% (95% confidence interval [CI], 53%–96%; heterogeneity [I<sup>2</sup>] = 0.00%) and 92% (95% CI, 88%–95%; I<sup>2</sup> = 24.8%), respectively. The positive and negative predictive values were 93% (95% CI, 85%–97%; I<sup>2</sup> = 61.5%) and 84% (95% CI, 53%–96%; I<sup>2</sup> = 0.00%), respectively. The diagnostic odds ratio was 22.78 (95% CI, 11.00–47.17; I<sup>2</sup> = 25.8%). Subgroup analysis showed a slight decrease in sensitivity (70%; 95% CI, 64%–76%; I<sup>2</sup> = 0.00%) and specificity (91%; 95% CI, 86%–94%; I<sup>2</sup> = 26.1%) when excluding the study with a lung cancer-predominant population.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>The combined analysis of <i>SHOX2</i> and <i>RASSF1A</i> methylation demonstrated promising diagnostic accuracy for MPE detection, outperforming cytology. This less invasive method could reduce reliance on more invasive procedures, although further research is needed to confirm its efficacy across diverse populations and cancer types.</p>\\n </section>\\n </div>\",\"PeriodicalId\":9410,\"journal\":{\"name\":\"Cancer Cytopathology\",\"volume\":\"133 8\",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-07-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.70031\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cancer Cytopathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/cncy.70031\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Cytopathology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cncy.70031","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
Diagnostic performance of SHOX2 and RASSF1A gene methylation assays in malignant pleural effusion: A systematic review and meta-analysis
Background
Malignant pleural effusion (MPE) is a common complication of advanced malignancies, requiring differentiation from benign pleural effusion for appropriate management. Cytology and biopsy have limitations, necessitating more sensitive, less invasive diagnostic techniques. The objective of this study was to evaluate the diagnostic accuracy of methylated SHOX2 (short-stature homeobox 2) and RASSF1A (Ras association domain family member 1A) genes in detecting MPE.
Methods
A systematic review and meta-analysis included studies that compared benign pleural effusion and MPE cohorts using methylation of SHOX2 and RASSF1A genes in pleural fluid as the index test and cytology/histopathology as the reference standard. A random-effects model was used to calculate sensitivity, specificity, predictive values, and diagnostic odds ratios. Subgroup analysis assessed performance in lung-predominant versus nonlung-predominant MPE.
Results
Four studies with a total of 534 participants were included. The pooled sensitivity and specificity were 85% (95% confidence interval [CI], 53%–96%; heterogeneity [I2] = 0.00%) and 92% (95% CI, 88%–95%; I2 = 24.8%), respectively. The positive and negative predictive values were 93% (95% CI, 85%–97%; I2 = 61.5%) and 84% (95% CI, 53%–96%; I2 = 0.00%), respectively. The diagnostic odds ratio was 22.78 (95% CI, 11.00–47.17; I2 = 25.8%). Subgroup analysis showed a slight decrease in sensitivity (70%; 95% CI, 64%–76%; I2 = 0.00%) and specificity (91%; 95% CI, 86%–94%; I2 = 26.1%) when excluding the study with a lung cancer-predominant population.
Conclusions
The combined analysis of SHOX2 and RASSF1A methylation demonstrated promising diagnostic accuracy for MPE detection, outperforming cytology. This less invasive method could reduce reliance on more invasive procedures, although further research is needed to confirm its efficacy across diverse populations and cancer types.
期刊介绍：
Cancer Cytopathology provides a unique forum for interaction and dissemination of original research and educational information relevant to the practice of cytopathology and its related oncologic disciplines. The journal strives to have a positive effect on cancer prevention, early detection, diagnosis, and cure by the publication of high-quality content. The mission of Cancer Cytopathology is to present and inform readers of new applications, technological advances, cutting-edge research, novel applications of molecular techniques, and relevant review articles related to cytopathology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
