Omer Javed, Neelum Mansoor, Naeem Jabbar, Hamza Khan, Talha Israr, Sidra Maqsood, Saba Jamal, Fatima Meraj
{"title":"Los cambios inmunofenotípicos en tiempo real en la leucemia linfoblástica pediátrica de tipo B tienen implicaciones para la detección de la enfermedad mínima residual.","authors":"Omer Javed, Neelum Mansoor, Naeem Jabbar, Hamza Khan, Talha Israr, Sidra Maqsood, Saba Jamal, Fatima Meraj","doi":"10.1515/almed-2025-0104","DOIUrl":"10.1515/almed-2025-0104","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"365-372"},"PeriodicalIF":1.1,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"La integración de la prueba de ctDNA en el análisis de <i>EGFR</i> en el carcinoma pulmonar no microcítico: estrategias para el laboratorio clínico.","authors":"Esther Fernández-Galán, Joan Anton Puig-Butillé","doi":"10.1515/almed-2025-0092","DOIUrl":"10.1515/almed-2025-0092","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"245-258"},"PeriodicalIF":1.1,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Biopsia líquida: Un paso adelante en la medicina de laboratorio.","authors":"Angel Díaz-Lagares, Wladimiro Jiménez","doi":"10.1515/almed-2025-0117","DOIUrl":"10.1515/almed-2025-0117","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"230-232"},"PeriodicalIF":1.1,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares
{"title":"ADN tumoral circulante en pacientes con cáncer: perspectivas desde el laboratorio clínico.","authors":"Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares","doi":"10.1515/almed-2025-0093","DOIUrl":"10.1515/almed-2025-0093","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"277-297"},"PeriodicalIF":1.1,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paula Liébanas García, Silvia Montolio Breva, Teresa Sans Mateu
{"title":"Evaluación del análisis de la relación albúmina-creatinina mediante tira reactiva como método de cribado para la determinación de albúmina en orina en atención primaria.","authors":"Paula Liébanas García, Silvia Montolio Breva, Teresa Sans Mateu","doi":"10.1515/almed-2025-0102","DOIUrl":"10.1515/almed-2025-0102","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"351-357"},"PeriodicalIF":1.1,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"<i>BRAF V600E</i> liquid biopsy-based detection in precision oncology.","authors":"Gabriela R Mendeluk, Verónica A Alonso","doi":"10.1515/almed-2025-0110","DOIUrl":"10.1515/almed-2025-0110","url":null,"abstract":"<p><strong>Introduction: </strong>The <i>BRAF V600E</i> mutation is one of the most relevant genetic mutations in precision oncology. This variation is commonly found in several types of tumors, including melanoma, colorectal cancer, and thyroid cancer, to name a few. Liquid biopsy has emerged as a minimally-invasive screening option for this mutation.</p><p><strong>Content: </strong>This review examines the molecular biology of the <i>BRAF V600E</i> mutation, its role in tumor progression, and its utility in the diagnosis, prognosis and treatment of specific types of tumors. In addition, the focus is also placed on liquid biopsy-based screening options and their advantages over solid biopsy.</p><p><strong>Summary: </strong>Detection of this mutation through liquid biopsy offers a less invasive alternative to conventional tissue biopsies, with potential utility in guiding treatment adjustments and monitoring therapeutic response.</p><p><strong>Outlook: </strong>The use of liquid biopsy for the detection of <i>BRAF V600E</i> is expected to widespread in clinical practice, leading to the optimization of disease monitoring and personalized treatments for cancer patients.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"298-305"},"PeriodicalIF":1.1,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Determinación de <i>BRAF V600E</i> por biopsia líquida en oncología de precisión.","authors":"Verónica A Alonso, Gabriela R Mendeluk","doi":"10.1515/almed-2024-0167","DOIUrl":"10.1515/almed-2024-0167","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"306-313"},"PeriodicalIF":1.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fernando Marqués-García, Elisabeth González-Lao, Xavier Tejedor-Ganduxé, Beatriz Boned, Jorge Díaz-Garzón, Margarida Simón, Jose Vicente García-Lario, Carme Perich, María Pilar Fernández-Fernández, Luisa María Martínez-Sánchez, María Muñoz-Calero, Ricardo González-Tarancón, Pilar Fernández-Calle
{"title":"Impact of six sigma estimated using the Schmidt-Launsbyn vs. the Westgard equation in the Spanish type I EQA program.","authors":"Fernando Marqués-García, Elisabeth González-Lao, Xavier Tejedor-Ganduxé, Beatriz Boned, Jorge Díaz-Garzón, Margarida Simón, Jose Vicente García-Lario, Carme Perich, María Pilar Fernández-Fernández, Luisa María Martínez-Sánchez, María Muñoz-Calero, Ricardo González-Tarancón, Pilar Fernández-Calle","doi":"10.1515/almed-2025-0091","DOIUrl":"10.1515/almed-2025-0091","url":null,"abstract":"<p><strong>Objectives: </strong>Six sigma methodology (SM) measures process performance using defects per million opportunities (DPMOs). SM has traditionally used the Westgard equation (WM), by which DPMOs are calculated indirectly. An alternative for directly calculate DPMOs is the Z-transformation method in combination with the Schmidt-Launsbyn equation. The implementation of SM in External Quality Assurance (EQA) programs is limited, which hampers their evaluation. A study was conducted to compare SM values obtained with the two equations.</p><p><strong>Materials and methods: </strong>Sigma value (SV) was estimated based on data from a Type I EQA Program (SCR-EQA-SEQC<sup>ML</sup>) using two methods: the Westgard equation, and the Z-transformation + Schmidt-Launsbyn method (S-LM). A comparison of the SVs obtained with the two methods was performed.</p><p><strong>Results: </strong>SVs were calculated from 949 values provided by the EQA program. The results indicate that WM underestimates SV, as compared to S-LM, independently of whether outliers were removed (2.9) or not (1.9). This underestimation occurs as a result of treatment bias rather than imprecision.</p><p><strong>Conclusions: </strong>Unlike MW, S-LM adjusts for bias, thereby preventing negative SVs. S-LM is not as influenced by outliers as MW and yields more robust SV estimates in EQA programs. This guarantees a more precise evaluation of results and classification of method/system performance.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"327-335"},"PeriodicalIF":1.1,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares
{"title":"Circulating tumor DNA in patients with cancer: insights from clinical laboratory.","authors":"Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares","doi":"10.1515/almed-2025-0010","DOIUrl":"10.1515/almed-2025-0010","url":null,"abstract":"<p><p>Blood-based circulating tumor DNA (ctDNA) analysis has emerged as a highly relevant non-invasive method for molecular profiling of solid tumors, offering valuable information about the genetic landscape of cancer. Somatic mutation analysis of ctDNA is now used clinically to guide targeted therapies for advanced cancers. Recent advancements have also revealed its potential in early detection, prognosis, minimal residual disease assessment, and prediction/monitoring of therapeutic response. In recent years, significant progress has been made with the development of various PCR and NGS-based methods designed for assessing gene variants in ctDNA of patients with cancer. However, despite the transformative possibilities that ctDNA analysis presents, challenges persist. Standardization of preanalytical and analytical protocols, assay sensitivity, and the interpretation of results remain critical hurdles that need to be addressed for the widespread clinical implementation of ctDNA testing. In addition to somatic mutations, emerging studies on DNA methylation (epigenomics) and fragment size patterns (fragmentomics) in several types of biological fluids are yielding promising results as non-invasive biomarkers for effective cancer management. This review addresses the clinical applications of somatic gene variants in ctDNA, emphasizes their potential as cancer biomarkers, and highlights essential factors for successful implementation in clinical laboratories and cancer management.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"259-276"},"PeriodicalIF":1.1,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}