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Journal articles on the topic 'Advanced molecular testing'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

C. Huynh, Jasmine, Erin Schwab, Jingran Ji, et al. "Recent Advances in Targeted Therapies for Advanced Gastrointestinal Malignancies." Cancers 12, no. 5 (2020): 1168. http://dx.doi.org/10.3390/cancers12051168.

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The treatment of advanced gastrointestinal (GI) cancers has become increasingly molecularly driven. Molecular profiling for HER2 and PD-L1 status is standard for metastatic gastroesophageal (GEJ) cancers to predict benefits from trastuzumab (HER2-targeted therapy) and pembrolizumab (anti-PD-1 therapy), while extended RAS and BRAF testing is standard in metastatic colorectal cancer to predict benefits from epidermal growth factor receptor (EGFR)-targeted therapies. Mismatch repair (MMR) or microsatellite instability (MSI) testing is standard for all advanced GI cancers to predict benefits from

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Litton, Jennifer K., Harold J. Burstein, and Nicholas C. Turner. "Molecular Testing in Breast Cancer." American Society of Clinical Oncology Educational Book, no. 39 (May 2019): e1-e7. http://dx.doi.org/10.1200/edbk_237715.

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Molecular testing for genetic and genomic variation has become an integral part of breast cancer management. Patients with a family history of breast cancer or other tumors, bilateral breast cancers, or early-onset breast cancers warrant genetic testing to determine whether a hereditary cancer syndrome is present. The availability of PARP inhibitors—drugs that are selectively active in BRCA1/2-associated breast cancers—has created the need for hereditary cancer testing for all patients diagnosed with advanced breast cancer. Tumor genomic profiling is the standard of care for many types of mali

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Khan, Mahir, Ryan Huu-Tuan Nguyen, Mary Pasquinelli, and Lawrence Eric Feldman. "Molecular testing in advanced lung adenocarcinoma: A single-center experience." Journal of Clinical Oncology 39, no. 15_suppl (2021): e21157-e21157. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e21157.

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e21157 Background: Standard of care testing prior to first-line therapy for advanced lung non-small cell lung cancer (NSCLC) includes EGFR mutations, ALK rearrangements, and PD-L1 expression. There is limited real-world evidence on NSCLC molecular testing patterns in underrepresented racial and ethnic populations. Methods: We identified adult patients newly diagnosed with stage IV lung adenocarcinoma at the University of Illinois Hospital & Health Sciences System between January 1, 2015 and October 1, 2019. Rates of biomarker testing for EGFR, ALK, and PD-L1 were determined, as well as the

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Woodman, Scott E., Alexander J. Lazar, Kenneth D. Aldape, and Michael A. Davies. "New Strategies in Melanoma: Molecular Testing in Advanced Disease." Clinical Cancer Research 18, no. 5 (2012): 1195–200. http://dx.doi.org/10.1158/1078-0432.ccr-11-2317.

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Makarem, Maisam, Miguel García-Pardo, and Natasha B. Leighl. "Plasma-Based Genotyping in Advanced Solid Tumors: A Comprehensive Review." Cancers 13, no. 21 (2021): 5299. http://dx.doi.org/10.3390/cancers13215299.

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Molecular genotyping for advanced solid malignancies has transformed the clinical management of patients with metastatic disease. Treatment decisions in a growing number of tumors require knowledge of molecularly driven alterations in order to select optimal targeted therapy. Although genomic testing of tumor tissue is the gold standard for identifying targetable genomic alterations, biopsy samples are often limited or difficult to access. This has paved the way for the development of plasma-based approaches for genomic profiling. Recent advances in the detection of plasma-circulating tumor DN

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Lim, C., H. S. Sekhon, J. C. Cutz, et al. "Improving molecular testing and personalized medicine in non-small-cell lung cancer in Ontario." Current Oncology 24, no. 2 (2017): 103. http://dx.doi.org/10.3747/co.24.3495.

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Background Although molecular testing has become standard in managing advanced nonsquamous non-small-cell lung cancer (nsclc), most patients undergo minimally invasive procedures, and the diagnostic tumour specimens available for testing are usually limited. A knowledge translation initiative to educate diagnostic specialists about sampling techniques and laboratory processes was undertaken to improve the uptake and application of molecular testing in advanced lung cancer.Methods A multidisciplinary panel of physician experts including pathologists, respirologists, interventional thoracic radi

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Carpenter, Rob E. "Beyond Standard Urine Culture: Advanced Molecular Testing for Urinary Tract Infections." SAR Journal of Medicine 5, no. 03 (2024): 80–86. http://dx.doi.org/10.36346/sarjm.2024.v05i03.003.

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In this review article, it is emphasized that adopting advanced molecular diagnostics is essential for modern UTI management, offering a more comprehensive, accurate, and rapid approach compared to traditional methods. Standard urine culture’s limitations include low sensitivity and failure to culture certain microorganisms, leading to undiagnosed cases and increased morbidity. Advanced molecular techniques, like multiplex-PCR and pooled antibiotic susceptibility testing have been shown to reduce empiric treatments and negative outcomes significantly. And advanced molecular methods like metage

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Horbinski, Craig, Keith L. Ligon, Priscilla Brastianos, et al. "The medical necessity of advanced molecular testing in the diagnosis and treatment of brain tumor patients." Neuro-Oncology 21, no. 12 (2019): 1498–508. http://dx.doi.org/10.1093/neuonc/noz119.

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Abstract Accurate pathologic diagnoses and molecularly informed treatment decisions for a wide variety of cancers depend on robust clinical molecular testing that uses genomic, epigenomic, and transcriptomic-based tools. Nowhere is this more essential than in the workup of brain tumors, as emphasized by the incorporation of molecular criteria into the 2016 World Health Organization classification of central nervous system tumors and the updated official guidelines of the National Comprehensive Cancer Network. Despite the medical necessity of molecular testing in brain tumors, access to and uti

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Liontos, Michael, Elena Kunadis, Anna Svarna, et al. "Molecular testing for prostate cancer in Greek patients." Journal of Clinical Oncology 40, no. 6_suppl (2022): 170. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.170.

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170 Background: Molecular testing for mutations in genes related to homologous recombination repair (HRR) and microsatellite instability (MSI) is suggested for patients with advanced prostate cancer by international guidelines. Recently, olaparib has been approved for patients with metastatic castration resistant prostate cancer patients that bear mutations in BRCA1/2 genes in Europe. In Greece, molecular testing for prostate cancer patients is not reimbursed. In this setting we describe our experience from investigating the molecular profile of patients with advanced/metastatic disease. Metho

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Teh, Jiasian, Ellen O'Connor, Jonathon O'Brien, et al. "Future directions in advanced penile cancer – mechanisms of carcinogenesis and a search for targeted therapy." Future Oncology 16, no. 29 (2020): 2357–69. http://dx.doi.org/10.2217/fon-2020-0434.

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Penile squamous cell carcinoma (SCC) is a rare and aggressive urological malignancy. Advanced penile SCC requires multimodal management, including surgery and systemic therapy. Given its rarity, there have been few substantial advances in our understanding of the molecular and genomic drivers of penile SCC, especially for patients with relapsed or advanced disease. In this review, we discuss the molecular and genomic landscape of penile SCC, clinical trials in progress and implications for novel therapeutic targets. Future work should focus on preclinical models to provide a platform for inves

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Chen, Yilin, Solomon James Lubinga, Scott David Ramsey, Jean Hurteau, Jade Reynolds, and Josh J. Carlson. "Molecular testing in primary advanced or recurrent endometrial cancer: A cost-effectiveness analysis." Journal of Clinical Oncology 43, no. 16_suppl (2025): 5598. https://doi.org/10.1200/jco.2025.43.16_suppl.5598.

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5598 Background: The Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) algorithm is a classification scheme for endometrial cancer (EC) based on sequential testing for DNA mismatch repair deficiency (dMMR), POLE exonuclease domain mutations, and p53 mutations. The cost-effectiveness of ProMisE vs no molecular testing to inform initial systemic treatment choice in patients with stage III/IV primary advanced/recurrent EC (pA/rEC) was assessed from payer and societal perspectives. Methods: A hybrid model comprising a decision tree for molecular classification (ProMisE vs no tes

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Malhotra, Jyoti, and Edward S. Kim. "How to Keep Up With Molecular Testing and Targeted Therapies in Lung Cancer." JCO Oncology Practice 20, no. 11 (2024): 1471–80. http://dx.doi.org/10.1200/op.24.00230.

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Until the early 2000s, advanced or metastatic non–small cell lung cancer (NSCLC) was treated as a single disease with all histologic subtypes treated alike with standard chemotherapy agents. Over the past two decades, the treatment paradigms for advanced NSCLC have changed dramatically with the discovery of multiple targeted therapies that are now approved for the treatment of NSCLC tumors with specific oncogene drivers or molecular alterations. Molecular testing has become integrated and critical for the clinical management of advanced NSCLC. The discovery and success of these targeted therap

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Shih, Lauren, Qin Sun, Catherine R. Fedorenko, et al. "Molecular testing utilization in patients with advanced non-small cell lung cancer (NSCLC) in Washington (WA) state." Journal of Clinical Oncology 41, no. 16_suppl (2023): 6596. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.6596.

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6596 Background: Therapies targeted at driver mutations (e.g. EGFR, ALK) in NSCLC have contributed to improved patient survival. While current guidelines recommend that all patients diagnosed with stage IV NSCLC undergo molecular testing to determine eligibility for targeted therapies, real-world testing patterns have not been well described. In a retrospective study using cancer registry and insurance claims, we evaluated rates of molecular testing in a population-based sample of NSCLC patients in WA. Methods: We linked WA state cancer registry records from 2017-2019 with claims records for M

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Rivers, Zachary, Rotem Ben-Shachar, Halla Nimeiri, Suzanne Belinson, Ira Klein, and Charu Aggarwal. "Abstract PS19-02: Economic Impact of Concurrent Tissue and Circulating Tumor DNA Molecular Profiling In Advanced Breast Cancer Patients." Clinical Cancer Research 31, no. 12_Supplement (2025): PS19–02—PS19–02. https://doi.org/10.1158/1557-3265.sabcs24-ps19-02.

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Abstract Background: The use of molecularly-directed targeted therapies has become a vital tool in treating advanced breast cancer patients. While solid tumor testing is standard of care for biomarker detection, the use of circulating tumor DNA (ctDNA), a noninvasive technology for molecular profiling is becoming more common. Concurrent testing, or the use of simultaneous solid tissue and ctDNA testing, has the potential to increase detection of actionable findings, as well as reduce adverse events from repeat biopsies compared to solid tissue testing alone. A large real-world study of patient

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Hirsch, Fred R., Bojan Zaric, Ahmed Rabea, et al. "Biomarker Testing for Personalized Therapy in Lung Cancer in Low- and Middle-Income Countries." American Society of Clinical Oncology Educational Book, no. 37 (May 2017): 403–8. http://dx.doi.org/10.1200/edbk_175243.

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There have been many important advances in personalized therapy for patients with lung cancer, particularly for those with advanced disease. Molecular testing is crucial for implementation of personalized therapy. Although the United States and many Western countries have come far in the implementation of personalized therapy for lung cancer, there are substantial challenges for low- and middle-income countries (LMICs). Globally, the LMICs display great heterogeneity in the pattern of implementation of molecular testing and targeted therapy. The current review presents an attempt to identify t

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Tajarernmuang, Pattraporn, Linda Ofiara, Stéphane Beaudoin, and Anne V. Gonzalez. "Bronchoscopic tissue yield for advanced molecular testing: are we getting enough?" Journal of Thoracic Disease 12, no. 6 (2020): 3287–95. http://dx.doi.org/10.21037/jtd-19-4119.

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Wagman, Lawrence D., Raymond Casciari, John Maurice, Peggy J. Crabtree, and Ruslan Horblyuk. "How Lean Methodology Can Improve Molecular Testing Processes in Advanced NSCLC." Oncology Issues 30, no. 1 (2015): 34–43. http://dx.doi.org/10.1080/10463356.2015.11883997.

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Kim, James J., Ann E. Leiss, and Alejandro R. Calvo. "Molecular testing in advanced non-squamous NSCLC in a community setting." Journal of Clinical Oncology 36, no. 15_suppl (2018): e21204-e21204. http://dx.doi.org/10.1200/jco.2018.36.15_suppl.e21204.

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Signorovitch, James, Zhou Zhou, Jason Ryan, and Anita Chawla. "Comprehensive genomic profiling (CGP) versus conventional molecular diagnostic testing of patients with advanced non-small cell lung cancer (NSCLC): Overall survival (OS) and cost in a U.S. health plan population." Journal of Clinical Oncology 35, no. 15_suppl (2017): 6599. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.6599.

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6599 Background: Molecular diagnostic testing options in NSCLC include conventional testing (specific alterations in single genes or multi-gene panels), and CGP (all classes of genomic alterations—base pair substitutions, copy number, insertions/deletions, and rearrangements in multi-gene panels). Guidelines recommend broad molecular profiling to enable genomic matching with available compendia-based and investigational treatment options. This study estimated the incremental benefits and costs of CGP versus conventional testing of patients with advanced NSCLC. Methods: The impacts of increased

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Neff, Jadee L., Claudio A. Mosse, Jessica Wang-Rodriguez, Sara Ahmed, and Michael Kelley. "Recommendation on Advanced Molecular Testing in Hematolymphoid Malignancies in the Veterans Population." Blood 138, Supplement 1 (2021): 4983. http://dx.doi.org/10.1182/blood-2021-154362.

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Abstract The Veterans Health Administration is the largest integrated provider of cancer services in the nation, with approximately 50,000 new cancer cases diagnosed each year. The goal of the VA's National Oncology Program is to establish a System of Excellence in cancer care with the help of tools, resources, programs, and best practices across the enterprise to ensure every veteran, regardless of location, receives the same high level of cancer care and access to precision diagnostics. This is mediated through a variety of programs, including the National TeleOncology Service and the Nation

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Kalemkerian, Gregory P., Navneet Narula, Erin B. Kennedy, et al. "Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Treatment With Targeted Tyrosine Kinase Inhibitors: American Society of Clinical Oncology Endorsement of the College of American Pathologists/International Association for the Study of Lung Cancer/Association for Molecular Pathology Clinical Practice Guideline Update." Journal of Clinical Oncology 36, no. 9 (2018): 911–19. http://dx.doi.org/10.1200/jco.2017.76.7293.

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Purpose In response to advances in the field, the College of American Pathologists (CAP), the International Association for the Study of Lung Cancer (IASLC), and the Association for Molecular Pathology (AMP) recently updated their recommendations for molecular testing for the selection of patients with lung cancer for treatment with targeted tyrosine kinase inhibitors. ASCO has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. Methods The molecular testing guideline was reviewed for developmental rigor by met

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Tayshetye, Pritam, Dulabh K. Monga, Gene Grant Finley, Swati Vishwanathan, Candice Brem, and Jan F. Silverman. "Molecular profiling of advanced malignancies: A community oncology network experience." Journal of Clinical Oncology 35, no. 15_suppl (2017): e23111-e23111. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e23111.

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e23111 Background: Many genomic alterations have been identified that are critical to the malignant phenotype. Some of these, termed “driver mutations”, are critical for tumor proliferation and progression. The landscape of targeted therapy has expanded as well. Next-generation sequencing (NGS) of tumors reveals cancer-related genomic alterations and provides therapeutic recommendations for specific targeted therapy. We analyzed our experience with FoundationOne, a validated NGS genomic profile in a community oncology network. Methods: NGS results from May 2014 to September 2016 from a communi

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Li, Weiyan, Suvina Amin, Seongjung Joo, et al. "Real-world timelines of BRCA1/2-related molecular testing in pancreatic cancer." Journal of Clinical Oncology 40, no. 4_suppl (2022): 601. http://dx.doi.org/10.1200/jco.2022.40.4_suppl.601.

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601 Background: BRCA1/2 mutations are present in ̃6-8% of patients with pancreatic adenocarcinoma. Olaparib is a recently approved PARP inhibitor (PARPi) in the US and Europe for germline BRCA1/2-mutated metastatic PaC in the 1st line maintenance setting following response to at least 16 weeks of a platinum-containing regimen. However, the availability of BRCA1/2 testing results at the time of 1st line and subsequent treatment decisions in the advanced stage has not been established in real-world settings. Methods: Longitudinal clinical/molecular data collected between 1/2012-12/2020 were retr

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Wistuba, Ignacio I. "Molecular Testing of Non–Small Cell Lung Carcinoma Biopsy and Cytology Specimens." American Society of Clinical Oncology Educational Book, no. 32 (June 2012): 459–64. http://dx.doi.org/10.14694/edbook_am.2012.32.44.

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Overview: During the past decade, substantial progress has been made in the characterization of molecular abnormalities in non–small cell carcinoma (NSCLC) tumors that are being used as molecular targets and predictive biomarkers for selection of targeted therapy. These recent advances in NSCLC targeted therapy require the analysis of a panel of molecular abnormalities in tumor specimens, including gene mutations (e.g., EGFR, KRAS, BRAF, DDR2), gene amplifications (e.g., MET, FGFR1), and fusions (e.g., EML4-ALK) by applying different methods to tumor tissue (biopsy) and cell (cytology) samples

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Braid, Susan. "The Basics of Molecular Genetic Testing in the NICU." Neonatal Network 38, no. 5 (2019): 274–77. http://dx.doi.org/10.1891/0730-0832.38.5.274.

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Understanding of genetics has grown rapidly over the past 20 years and has led to the new diagnostic genetic technologies used in the NICU. These molecular genetic tests help diagnose neonates with congenital anomalies, growth disorders, and dysmorphic features. This article presents the basic molecular biology needed to understand such diagnostic tools. Neonatal intensive care nurses are on the forefront of this technology, and need to understand it so they can provide optimal nursing care and support to parents of neonates going through this advanced genetic testing.

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Smith, Benjamin F., Ken J. Hampel, and Nikoletta Sidiropoulos. "Benefits of Implementing Reflex Genomic Analysis for Nonsmall Cell Lung Cancer." Journal of Applied Laboratory Medicine 9, no. 1 (2024): 28–40. http://dx.doi.org/10.1093/jalm/jfad104.

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Abstract Background Molecular biomarker analysis is standard of care in advanced nonsmall cell lung cancer (NSCLC). Pathologist-driven reflex testing protocols are one approach to initiating this analysis. Two years after insourcing genomic analysis at our institution, a reflex testing protocol for advanced NSCLC was initiated. Methods A retrospective review of the records of 578 NSCLC biopsies was performed to assess the impact of 3 genomic testing workflows (send-out, in-house clinician-ordered, and in-house reflex) on time to initiation of molecular testing [initiation time (IT)], reporting

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C. Moore, PharmD, BCPS, BCOP, DPLA, FCCP, Donald, and Andrew S. Guinigundo, MSN, RN, CNP, ANP-BC. "The Advanced Practitioner’s Role in the Rapidly Evolving Landscape of Precision Medicine." Journal of the Advanced Practitioner in Oncology 14, no. 3 (2023): 39–48. http://dx.doi.org/10.6004/jadpro.2023.14.3.18.

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The advent of precision medicine targeting oncogenic mutations and other alterations has led to a paradigm shift in the treatment of many solid tumors and hematologic malignancies. For many of these agents, predictive biomarker testing is necessary to determine the presence of such alterations in order to select patients who are most likely to respond, and to avoid the use of ineffective and potentially harmful alternative therapy. Recent technological advances such as next-generation sequencing have facilitated the identification of targetable biomarkers in patients with cancer and thus help

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Lozano, Maria D., José I. Echeveste, Marta Abengozar, et al. "Cytology Smears in the Era of Molecular Biomarkers in Non–Small Cell Lung Cancer: Doing More With Less." Archives of Pathology & Laboratory Medicine 142, no. 3 (2018): 291–98. http://dx.doi.org/10.5858/arpa.2017-0208-ra.

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Context.— The rapid advances in targeted therapies in non–small cell lung cancer (NSCLC) make the optimization and implementation of cytology specimens for molecular testing a priority. Up to 70% of patients with NSCLC are diagnosed at advanced stages and tissue biopsies often cannot be taken. Although cytology samples provide high-quality material for molecular testing, molecular cytopathology is not yet well known or widely used. Objective.— To report the many advances in molecular cytopathology and the suitability and utility of cytology samples in molecular and genetic testing of NSCLC. Da

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Sandy, MSN, CRNP, Beth, and Jennifer Morrissette, PhD, FACMG. "Lung Cancer Biomarker Speak: Teach Me the Language." Journal of the Advanced Practitioner in Oncology 13, no. 3 (2022): 302–5. http://dx.doi.org/10.6004/jadpro.2022.13.3.24.

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A vital role of the advanced practitioner is to analyze biomarker testing reports and explain to patients how the results may impact their treatment. At JADPRO Live Virtual 2021, presenters reviewed the importance of molecular testing in non–small cell lung cancer and how to interpret molecular pathology reports.

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Dikshita, Medhi, Agarwal Swati, Sharma Dharitri, and Kumar Purushottam. "Recent advancement in clinical diagnosis." World Journal of Biology Pharmacy and Health Sciences 12, no. 3 (2022): 244–53. https://doi.org/10.5281/zenodo.7639087.

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Periodontitis is a chronic inflammatory condition of the tissues surrounding the tooth, associated with attachment loss. It is a series of events which starts from gingivitis and when remains untreated progresses to periodontitis. Traditional periodontal clinical diagnostic parameters which include probing depths, bleeding on probing, clinical attachment levels, plaque index, and radiographs are insufficient for identifying sites of active diseases. Thus, advanced techniques like newer generation of periodontal probes, advances in microbiological analysis, immunodiagnostic techniques, molecula

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Day, Nigel M., Christopher C. Kearsey, and Paul A. Sutton. "Neoadjuvant treatment of advanced colonic cancer: a paradigm shift?" British Journal of Surgery 109, no. 10 (2022): 895–97. http://dx.doi.org/10.1093/bjs/znac262.

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Neoadjuvant chemotherapy is an exciting and emerging field for colonic cancer treatment. This article reviews the evidence for such treatment and the role of of molecular testing in treatment selection.

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Kumpati, Ramesh, Wojciech Skarka, and Sunith Kumar Ontipuli. "Current Trends in Integration of Nondestructive Testing Methods for Engineered Materials Testing." Sensors 21, no. 18 (2021): 6175. http://dx.doi.org/10.3390/s21186175.

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Material failure may occur in a variety of situations dependent on stress conditions, temperature, and internal or external load conditions. Many of the latest engineered materials combine several material types i.e., metals, carbon, glass, resins, adhesives, heterogeneous and nanomaterials (organic/inorganic) to produce multilayered, multifaceted structures that may fail in ductile, brittle, or both cases. Mechanical testing is a standard and basic component of any design and fabricating process. Mechanical testing also plays a vital role in maintaining cost-effectiveness in innovative advanc

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Lai, Gillianne Geet Yi, Xin Min Cheng, Yvonne Li’en Ang, et al. "Molecular testing in non-small cell lung cancer: A consensus recommendation." Annals of the Academy of Medicine, Singapore 52, no. 7 (2023): 364–73. http://dx.doi.org/10.47102/annals-acadmedsg.2022473.

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Introduction: Lung cancer remains an important cause of cancer-related mortality in Singapore, with a greater proportion of non-smokers diagnosed with non-small cell lung cancer (NSCLC) in the past 2 decades. The higher prevalence of targetable genomic alterations in lung cancer diagnosed in Singapore compared with countries in the West, as well as the expanding therapeutic landscape for NSCLC in the era of precision medicine, are both factors that underscore the importance of efficient and effective molecular profiling. Method: This article provides consensus recommendations for biomarker tes

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Stoffel, Elena M., and John M. Carethers. "Current Approaches to Germline Cancer Genetic Testing." Annual Review of Medicine 71, no. 1 (2020): 85–102. http://dx.doi.org/10.1146/annurev-med-052318-101009.

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The prevalence of genetic predisposition to cancer is greater than initially appreciated, yet most affected individuals remain undiagnosed. Deleterious germline variants in cancer predisposition genes are implicated in 1 in 10 cases of advanced cancer. Next-generation sequencing technologies have made germline and tumor DNA sequencing more accessible and less expensive. Expanded access to clinical genetic testing will improve identification of individuals with genetic predisposition to cancer and provide opportunities to effectively reduce morbidity through precision cancer therapies and surve

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Garcia-Pardo, Miguel, Kasia Czarnecka, Jennifer H. Law, et al. "Plasma-first: accelerating lung cancer diagnosis and molecular profiling through liquid biopsy." Therapeutic Advances in Medical Oncology 14 (January 2022): 175883592211261. http://dx.doi.org/10.1177/17588359221126151.

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Introduction: Molecular profiling of tumor tissue is the gold standard for treatment decision-making in advanced non-small cell lung cancer (NSCLC). Results may be delayed or unavailable due to insufficient tissue, prolonged wait times for biopsy, pathology assessment and testing. We piloted the use of plasma testing in the initial diagnostic workup for patients with suspected advanced lung cancer. Methods: Patients with ⩽15 pack-year smoking history and suspected advanced lung cancer referred to the lung cancer rapid diagnostic program underwent plasma circulating-tumor DNA testing using a DN

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Olszanski, Anthony J., and Jeffrey M. Farma. "Real-world patterns of molecular testing in advanced melanoma (advMel): adherence to guidelines." Journal of Clinical Oncology 38, no. 15_suppl (2020): e22031-e22031. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e22031.

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e22031 Background: National guidelines (eg, NCCN and ESMO) recommend BRAF mutation testing to inform treatment (tx) decisions in high-risk stage III or IV cutaneous melanoma, but few studies have evaluated its implementation in a real-world setting. Here we report the testing patterns for BRAF and other mutations in advMel via an electronic health record (EHR)–derived database, to assess guideline adherence and implications for patient (pt) care. Methods: This retrospective observational study used Flatiron Health’s nationwide longitudinal database comprising de-identified EHR structured and u

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Nadauld, Lincoln, Bryce Perkins, Gary Stone, et al. "A quality outcomes analysis following treatment with personalized genomic cancer medicine." Journal of Clinical Oncology 32, no. 30_suppl (2014): 12. http://dx.doi.org/10.1200/jco.2014.32.30_suppl.12.

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12 Background: Personalized genomic cancer medicine is an approach that has long shown efficacy in molecularly-defined subsets of breast and lung cancers, amongst others, but has not been employed more broadly, in part, due to limitations in testing technologies. Recent advances in genomic technologies have increasingly alleviated these constraints, thereby enabling precision cancer medicine. Data regarding the quality outcomes of patients treated with precision cancer medicine is an important next step along the path to widespread employment of this approach. Methods: We performed an IRB-appr

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Furnier, Sarah M., Maureen S. Durkin, and Mei W. Baker. "Translating Molecular Technologies into Routine Newborn Screening Practice." International Journal of Neonatal Screening 6, no. 4 (2020): 80. http://dx.doi.org/10.3390/ijns6040080.

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As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience

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Aggarwal, Charu, Melina Elpi Marmarelis, Wei-Ting Hwang, et al. "Association of comprehensive molecular genotyping and overall survival in patients with advanced non-squamous non-small cell lung cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): 9022. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.9022.

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9022 Background: Current guidelines recommend comprehensive molecular genotyping for newly diagnosed patients (pts) with metastatic non-squamous (non-Sq) NSCLC. We have previously demonstrated that concurrent plasma (P) and tissue (T) based next-generation sequencing (NGS) improves detection of clinically actionable mutations in pts with advanced NSCLC. We analyzed the impact of concurrent T+P NGS on comprehensiveness of molecular genotyping and on overall survival (OS). Methods: A retrospective cohort study of pts with newly diagnosed stage IV non-Sq NSCLC who received therapy at our institut

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Berardi, Giuliana G., Jabbar Muthanna, Y. Lynn Wang, and Anthony J. Olszanski. "Recurrent Melanoma in a Patient with Chronic Lymphocytic Leukemia (CLL) Presenting with an Apparent Co-Existing NRAS and BRAF Mutation: A Diagnostic and Treatment Conundrum." International Journal of Molecular Sciences 26, no. 3 (2025): 1029. https://doi.org/10.3390/ijms26031029.

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Melanoma is the fifth most common cancer in the United States. The advent of immunotherapy and molecular targeted therapy has improved progression-free and overall survival in many patients with advanced disease. However, the selection of therapeutic choices requires a nuanced approach, especially when considering molecularly targeted agents. This case report highlights a diagnostic and therapeutic challenge in managing a patient with a history of chronic lymphocytic leukemia (CLL) and recurrent melanoma. Molecular testing suggested discordant BRAF V600E testing and a simultaneous NRAS G12D mu

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Falcone, Rosa, Pasquale Lombardi, Marco Filetti, et al. "Molecular Profile and Matched Targeted Therapy for Advanced Breast Cancer Patients." Current Oncology 30, no. 2 (2023): 2501–9. http://dx.doi.org/10.3390/curroncol30020191.

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(1) Background: Precision oncology is opening new treatment opportunities for patients suffering from solid tumors. In the last two decades, the advent of CDK4/6 inhibitors, immunotherapy, and antibody–drug conjugates (ADC) improved survival outcomes for advanced or metastatic breast cancers (BC). Nevertheless, some patients progress to approved therapies and still maintain good clinical conditions. (2) Methods: With the aim to estimate the accrual rate to experimental precision oncology treatments, we collected molecular and clinical characteristics of BC patients evaluated at Phase 1 Unit of

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Parker, Barbara A., Maria Schwaederlé, Michael D. Scur, et al. "Breast Cancer Experience of the Molecular Tumor Board at the University of California, San Diego Moores Cancer Center." Journal of Oncology Practice 11, no. 6 (2015): 442–49. http://dx.doi.org/10.1200/jop.2015.004127.

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Walker, Alyssa M., Tristan T. Timbrook, Benjamin Hommel, and Andrea M. Prinzi. "Breaking Boundaries in Pneumonia Diagnostics: Transitioning from Tradition to Molecular Frontiers with Multiplex PCR." Diagnostics 14, no. 7 (2024): 752. http://dx.doi.org/10.3390/diagnostics14070752.

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The advent of rapid molecular microbiology testing has revolutionized infectious disease diagnostics and is now impacting pneumonia diagnosis and management. Molecular platforms offer highly multiplexed assays for diverse viral and bacterial detection, alongside antimicrobial resistance markers, providing the potential to significantly shape patient care. Despite the superiority in sensitivity and speed, debates continue regarding the clinical role of multiplex molecular testing, notably in comparison to standard methods and distinguishing colonization from infection. Recent guidelines endorse

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Ramsey, Scott David, Yilin Chen, Solomon Lubinga, Troy Williams, and Josh J. Carlson. "Real-world molecular testing patterns in primary advanced or recurrent endometrial cancer (pA/rEC) in the US." JCO Oncology Practice 20, no. 10_suppl (2024): 395. http://dx.doi.org/10.1200/op.2024.20.10_suppl.395.

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395 Background: Targeted therapy can improve outcomes in women with pA/rEC, but real-world biomarker testing rates are unknown. This study estimated the real-world proportion of patients receiving biomarker testing (within ≤6 months of advanced/recurrent diagnosis) and characterized testing according to sociodemographic and clinical characteristics. Methods: We used the US Flatiron Health electronic health record–derived deidentified database. Records from 1/1/2013 to 8/31/2023 for women ≥18 years old with advanced/recurrent EC were searched to identify testing for DNA mismatch repair/microsat

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Bedeir, Ahmed, and Alyssa M. Krasinskas. "Molecular Diagnostics of Colorectal Cancer." Archives of Pathology & Laboratory Medicine 135, no. 5 (2011): 578–87. http://dx.doi.org/10.5858/2010-0613-rair.1.

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Abstract Context.—Of all gastrointestinal tract epithelial malignancies, molecular diagnostics has impacted colorectal cancer the most. Molecular testing can detect sporadic and inherited colorectal cancers that arise through the microsatellite instability pathway and can determine the efficacy of targeted drug therapy. Objectives.—To review the microsatellite instability pathway of colorectal carcinoma carcinogenesis and to demonstrate the diagnostic utility of molecular testing in the detection of patients with Lynch syndrome, an inherited disorder of this pathway. Also, to review the signif

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Aaida Mohsen Mohsen Kharizi. "Molecular Diagnostics: The Role of Lab Technicians in Genetic Testing." Power System Technology 48, no. 4 (2024): 2905–21. https://doi.org/10.52783/pst.1172.

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Molecular diagnostics has revolutionized the medical field by providing precise, early, and often more reliable diagnoses for a wide range of diseases, including genetic disorders, infections, and cancers. The role of lab technicians in genetic testing is critical, as they ensure the proper collection, preparation, analysis, and interpretation of genetic samples. Lab technicians are involved in utilizing advanced molecular techniques such as polymerase chain reaction (PCR), next-generation sequencing (NGS), and microarrays to detect genetic variations, mutations, and pathogens at the molecular

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Alzumaili, Bayan, and Peter M. Sadow. "Update on Molecular Diagnostics in Thyroid Pathology: A Review." Genes 14, no. 7 (2023): 1314. http://dx.doi.org/10.3390/genes14071314.

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Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation. For those nodules that raise clinical concern of neoplasia, fine needle aspiration biopsy is the gold standard for evaluation; however, in up to 30% of cases, results are indeterminate for malignancy, and further testing is needed. Advances in molecular testing have shown it to be of benefit for both diagnostic and prognostic purposes, and its use has become an integral part of thyroid cancer management in the United States a

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Johnson, Elizabeth, Margaret Stefan, Nicolette Theriault, Yael Waknine, and Jared Weiss. "Real-world impact of oncology education on clinical practices at five community cancer care centers." Journal of Clinical Oncology 41, no. 16_suppl (2023): e23003-e23003. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e23003.

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e23003 Background: Broad based molecular testing is an underutilized but essential factor in determining patient candidacy for frontline immunotherapy (IO) for advanced NSCLC. Findings from previous educational initiatives and real-world studies such as Nadler et al. and Velcheti, et al. indicate that understanding the importance of molecular testing to optimize therapy in NSCLC, remains an educational gap among oncology clinicians. Based on this real-world data, an educational initiative was developed to impart demonstrable change in clinician’s molecular testing practices and IO treatment se

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Mehta, Rutika, Astra M. Liepa, Shen Zheng, and Anindya Chatterjee. "Real-World Molecular Biomarker Testing Patterns and Results for Advanced Gastroesophageal Cancers in the United States." Current Oncology 30, no. 2 (2023): 1869–81. http://dx.doi.org/10.3390/curroncol30020145.

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The decision to treat advanced gastroesophageal cancers (GECs) with targeted therapy and immunotherapy is based on key biomarker expression (human epidermal growth factor receptor 2 (HER2), programmed cell death-ligand 1 (PD-L1), microsatellite instability (MSI), and/or mismatch repair (MMR)). Real-world data on testing, results, and treatment patterns are limited. This retrospective observational study used a nationwide electronic health record-derived de-identified database of patients from the United States. The analysis included adult patients with advanced GECs who initiated systemic trea

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Vigliar, Elena, Claudio Bellevicine, Gennaro Acanfora, et al. "How Molecular and Ancillary Tests Can Help in Challenging Cytopathology Cases: Insights from the International Molecular Cytopathology Meeting." Journal of Molecular Pathology 5, no. 2 (2024): 228–37. http://dx.doi.org/10.3390/jmp5020015.

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Over the past decade, molecular cytopathology has emerged as a relevant area of modern pathology. Notably, in patients with advanced-stage cancer, cytological samples could be the only material available for diagnosis and molecular biomarker testing to identify patients suitable for targeted therapies. As a result, the contemporary cytopathologist’s role extends beyond morphological assessments to include critical skills such as evaluating the adequacy of the cytological samples and managing these specimens for molecular testing. This case collection can be a valuable source of insight, especi

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