Allan Vinícius Martins-de-Barros, Fábio Andrey da Costa Araújo, Ana Maria Ipólito Barros, Elenisa Glaucia Ferreira dos Santos, Adauto Gomes Barbosa Neto, Helker Albuquerque Macedo da Silva, Elker Lene Santos de Lima, Maria Tereza Cartaxo Muniz, Riedel Frota Sá Nogueira Neves, Rômulo Oliveira de Hollanda Valente, Emanuel Dias de Oliveira e Silva, Marianne de Vasconcelos Carvalho
{"title":"无法从羊膜母细胞瘤患者的循环无细胞DNA中检测到BRAF V600E突变：一项诊断准确性研究。","authors":"Allan Vinícius Martins-de-Barros, Fábio Andrey da Costa Araújo, Ana Maria Ipólito Barros, Elenisa Glaucia Ferreira dos Santos, Adauto Gomes Barbosa Neto, Helker Albuquerque Macedo da Silva, Elker Lene Santos de Lima, Maria Tereza Cartaxo Muniz, Riedel Frota Sá Nogueira Neves, Rômulo Oliveira de Hollanda Valente, Emanuel Dias de Oliveira e Silva, Marianne de Vasconcelos Carvalho","doi":"10.1111/jop.13529","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the <i>BRAF V600E</i> mutation in circulating cell-free DNA from patients with ameloblastoma.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of <i>BRAF V600E</i> mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type <i>BRAF</i> lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Twelve patients with conventional ameloblastoma were included. <i>BRAF V600E</i> mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the <i>BRAF V600E</i> mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the <i>BRAF V600E</i> mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.</p>\n </section>\n </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"53 4","pages":"258-265"},"PeriodicalIF":2.7000,"publicationDate":"2024-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"It was not possible to detect BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma: A diagnostic accuracy study\",\"authors\":\"Allan Vinícius Martins-de-Barros, Fábio Andrey da Costa Araújo, Ana Maria Ipólito Barros, Elenisa Glaucia Ferreira dos Santos, Adauto Gomes Barbosa Neto, Helker Albuquerque Macedo da Silva, Elker Lene Santos de Lima, Maria Tereza Cartaxo Muniz, Riedel Frota Sá Nogueira Neves, Rômulo Oliveira de Hollanda Valente, Emanuel Dias de Oliveira e Silva, Marianne de Vasconcelos Carvalho\",\"doi\":\"10.1111/jop.13529\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the <i>BRAF V600E</i> mutation in circulating cell-free DNA from patients with ameloblastoma.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of <i>BRAF V600E</i> mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type <i>BRAF</i> lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>Twelve patients with conventional ameloblastoma were included. <i>BRAF V600E</i> mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the <i>BRAF V600E</i> mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the <i>BRAF V600E</i> mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.</p>\\n </section>\\n </div>\",\"PeriodicalId\":16588,\"journal\":{\"name\":\"Journal of Oral Pathology & Medicine\",\"volume\":\"53 4\",\"pages\":\"258-265\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-03-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Oral Pathology & Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/jop.13529\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Oral Pathology & Medicine","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/jop.13529","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
It was not possible to detect BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma: A diagnostic accuracy study
Background
The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma.
Methods
This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of BRAF V600E mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type BRAF lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated.
Results
Twelve patients with conventional ameloblastoma were included. BRAF V600E mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%.
Conclusion
Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the BRAF V600E mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.
期刊介绍：
The aim of the Journal of Oral Pathology & Medicine is to publish manuscripts of high scientific quality representing original clinical, diagnostic or experimental work in oral pathology and oral medicine. Papers advancing the science or practice of these disciplines will be welcomed, especially those which bring new knowledge and observations from the application of techniques within the spheres of light and electron microscopy, tissue and organ culture, immunology, histochemistry and immunocytochemistry, microbiology, genetics and biochemistry.
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