Diagnostic performance of RASSF1A and SHOX2 methylation combined with EGFR mutations for differentiation between small pulmonary nodules

Ji, Xiangyu; Li, Hong; Chen, Huihui; Lin, Jie

doi:10.1007/s00432-023-04745-8

Cited by 5 publications

(5 citation statements)

References 73 publications

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“…[ 21 ] Notably, although one case each of PECOMA, lymphoma, and metastatic adenocarcinoma showed positive methylation results in this study, the excellent specificity (100%) of methylation detection in distinguishing pulmonary carcinomas from other benign lesions remained consistent with previous studies. [ 18 - 20 , 22 ] However, it is worth mentioning that the DNA concentration of the samples in this study was significantly lower compared to that of other types of pathological specimens reported in the previous research. [ 18 - 2 , 22 ] In fact, four cases of non-SCC produced invalid negative results due to Ctb-ACTB values exceeding 32.…”

Section: Discussionmentioning

confidence: 58%

“…[ 18 - 20 , 22 ] However, it is worth mentioning that the DNA concentration of the samples in this study was significantly lower compared to that of other types of pathological specimens reported in the previous research. [ 18 - 2 , 22 ] In fact, four cases of non-SCC produced invalid negative results due to Ctb-ACTB values exceeding 32. The notable efficiency in detection might be attributed to prior conventional PCR amplification, which increased the concentration of the relevant DNA fragments before methylation-specific PCR.…”

Section: Discussionmentioning

confidence: 74%

“…Consistent with prior studies, the analysis of SHOX2 and RASSF1A methylation in this research yielded positive results in 66.67% of metastatic pulmonary malignancies. [ 18 - 20 ] Among these malignancies, SCC displayed the highest positivity rate in the methylation test, followed by SQC, while ADC exhibited the lowest positivity rate. [ 20 ] The relative lower sensitivity of ADC impair diagnostic efficacy of the kit due to a considerate subset of ADCs may present hypomethylation within the SHOX2 gene body.…”

Section: Discussionmentioning

confidence: 99%

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

Lan,

Zhang,

Yang

et al. 2024

Cytojournal

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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.

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Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 99%

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

Lan,

Zhang,

Yang

et al. 2024

Cytojournal

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“…This study did not combine with methylation of other DNAs known to be associated with lung cancer including SOX17, TAC1, HOXA7, and RASSF1A. 10 36 37 38 Lastly, in this study, a statistically significant increase in sensitivity was shown as the stage of the patients in the subgroup progressed, with 57.1% in stages I and II compared to 88% in stage III and IV of lung cancer. The sensitivity of this study increases as the stage progresses, however patients with advanced lung cancer require biopsy for chemotherapy rather than surgery.…”

Section: Discussionmentioning

confidence: 73%

Combination Analysis of PCDHGA12 and CDO1 DNA Methylation in Bronchial Washing Fluid for Lung Cancer Diagnosis

Park,

Kang,

Lee

et al. 2024

J Korean Med Sci

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Background When suspicious lesions are observed on computer-tomography (CT), invasive tests are needed to confirm lung cancer. Compared with other procedures, bronchoscopy has fewer complications. However, the sensitivity of peripheral lesion through bronchoscopy including washing cytology is low. A new test with higher sensitivity through bronchoscopy is needed. In our previous study, DNA methylation of PCDHGA12 in bronchial washing cytology has a diagnostic value for lung cancer. In this study, combination of PCDHGA12 and CDO1 methylation obtained through bronchial washing cytology was evaluated as a diagnostic tool for lung cancer. Methods A total of 187 patients who had suspicious lesions in CT were enrolled. PCDHGA12 methylation test, CDO1 methylation test, and cytological examination were performed using 3-plex LTE-qMSP test. Results Sixty-two patients were diagnosed with benign diseases and 125 patients were diagnosed with lung cancer. The sensitivity of PCDHGA12 was 74.4% and the specificity of PCDHGA12 was 91.9% respectively. CDO1 methylation test had a sensitivity of 57.6% and a specificity of 96.8%. The combination of both PCDHGA12 methylation test and CDO1 methylation test showed a sensitivity of 77.6% and a specificity of 90.3%. The sensitivity of lung cancer diagnosis was increased by combining both PCDHGA12 and CDO1 methylation tests. Conclusion Checking DNA methylation of both PCDHGA12 and CDO1 genes using bronchial washing fluid can reduce the invasive procedure to diagnose lung cancer.

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“…Lung cancer is the leading cause of cancer-related mortality globally, with about 2.2 million incidences and 1.8 million deaths in 2020 (Hughes et al 2022 ). Late diagnosis is largely responsible for its extremely high mortality rate (Ji et al 2023 ). The 5-year survival rate for patients with stage I disease is about 81%–85% while it decreases in 15%–19% for patients with higher stages (Begum et al 2011 ; Blandin Knight et al 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Detection of the DNA methylation of seven genes contribute to the early diagnosis of lung cancer

Du,

Tan,

Xiao

et al. 2024

J Cancer Res Clin Oncol

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Background Low-dose Computed Tomography (CT) is used for the detection of pulmonary nodules, but the ambiguous risk evaluation causes overdiagnosis. Here, we explored the significance of the DNA methylation of 7 genes including TAC1, CDO1, HOXA9, ZFP42, SOX17, RASSF1A and SHOX2 in the blood cfDNA samples in distinguishing lung cancer from benign nodules and healthy individuals. Method A total of 149 lung cancer patients [72 mass and 77 ground-glass nodules (GGNs)], 5 benign and 48 healthy individuals were tested and analyzed in this study. The lasso-logistic regression model was built for distinguishing cancer and control/healthy individuals or IA lung cancer and non-IA lung cancer cases. Results The positive rates of methylation of 7 genes were higher in the cancer group as compared with the healthy group. We constructed a model using age, sex and the ΔCt value of 7 gene methylation to distinguish lung cancer from benign and healthy individuals. The sensitivity, specificity and AUC (area under the curve) were 86.7%, 81.4% and 0.891, respectively. Also, we assessed the significance of 7 gene methylation together with patients’ age and sex in distinguishing of GGNs type from the mass type. The sensitivity, specificity and AUC were 77.1%, 65.8% and 0.753, respectively. Furthermore, the methylation positive rates of CDO1 and SHOX2 were different between I-IV stages of lung cancer. Specifically, the positive rate of CDO1 methylation was higher in the non-IA group as compared with the IA group. Conclusion Collectively, this study reveals that the methylation of 7 genes has a big significance in the diagnosis of lung cancer with high sensitivity and specificity. Also, the 7 genes present with certain significance in distinguishing the GGN type lung cancer, as well as different stages.

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Diagnostic performance of RASSF1A and SHOX2 methylation combined with EGFR mutations for differentiation between small pulmonary nodules

Cited by 5 publications

References 73 publications

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

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

Combination Analysis of PCDHGA12 and CDO1 DNA Methylation in Bronchial Washing Fluid for Lung Cancer Diagnosis

Detection of the DNA methylation of seven genes contribute to the early diagnosis of lung cancer

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