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Cadonilimab plus lenvatinib in advanced endometrial cancer: the multicenter single-arm phase II CLEAR-EC trial.

Treatment options are limited for women with advanced endometrial cancer after platinum-based chemotherapy. In this single-arm, multicenter … duration of response, disease control rate, and safety. Prespecified exploratory analyses assessed circulating tumor DNA in relation to efficacy, with additional post-hoc biomarker analyses. No dose-limiting toxicities occurred, establishing lenvatinib 16 mg once daily plus cadonilimab 10 mg/kg every three weeks as the recommended phase II dose. The trial met its pres …

Performance of Liquid Biopsy for Diagnosis and Surveillance of Human Papillomavirus-Associated Oropharyngeal Cancer.

IMPORTANCE: There is growing interest in the use of circulating plasma tumor human papillomavirus (HPV) DNA for diagnosis and surveillance of patients with HPV-associated oropharyngeal squamous cell carcinoma (OPSCC). Recent advances in the assays, combining the identification of circulating HPV tumor DNA and tumor DNA fragment analysis (tumor tissue-modified viral [TTMV]-HPV DNA), have been shown to be highly accurate. However, use of these newer techniques has been limited to small cohort studies and clinical trials. OBJECTIVE: To establish the clinical efficacy of plasma TTMV-HPV DNA testi

Molecular patterns of egyptian patients with non-squamous non-small-cell lung cancers: a clinicopathological study.

BACKGROUND: Driver molecular aberrations, such as epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) gene … testing, including EGFR mutations in formalin-fixed paraffin-embedded (FFPE) tumor tissue and serum circulating tumor DNA using next-generation sequencing and ALK gene rearrangement by FFPE tumor tissue, and follow-up data regarding treatment modalities and outcomes were collected. RESULTS: The median age of the patients was 57 years (range: 32-79 years). Out of 131 p …

Liquid biopsy and PCR-free ultrasensitive detection systems in oncology (Review).

In oncology, liquid biopsy is used in the detection of next-generation analytes, such as tumor cells, cell-free nucleic acids and exosomes in peripheral blood and other body fluids from cancer patients. It is considered one of the most advanced non-invasive diagnostic systems to enable clinically relevant actions and implement precision medicine. Medical actions include, but are not limited to, early diagnosis, staging, prognosis, anticipation (lead time) and the prediction of therapy responses, as well as follow-up. Historically, the applications of liquid biopsy in cancer have focused on cir

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… tumor DNA to monitor metastatic breast cancer | Breast cancer | Microfluidic digital PCR assay | Circulating tumor DNA is an informative, inherently specific, and highly sensitive biomarker of metastatic breast cancer | Dawson et al ( 34 ) | 2013 Non-invasive analysis of acquired resistance to cancer … tumor DNA in metastatic uveal melanoma | Melanoma | Bidirectional pyrophosphorolysis-activated polymerization (bi-PAP) real-time PCR | Bi-PAP assays detect and quantify ctDNA in patients with metastatic uveal melanoma | Madic et al ( 40 ) | 2012 Personalized circulating tumor DNA biomarkers dynamically …

Pharmacologic Resistance in Soft Tissue Sarcomas: Mechanisms, Biomarkers, and Translational Therapeutic Strategies.

Soft tissue sarcomas are rare, biologically diverse mesenchymal malignancies in which pharmacologic resistance cannot be explained by a sing … ited clinical maturity-of pharmacogenomic markers, immune signatures, tertiary lymphoid structures, circulating tumor DNA, and circulating methylation-based approaches. Finally, emerging strategies to overcome resistance are examined, including mechanism-based combinations, biomarker-guided treatment selection, synthetic lethality, functional precision platforms, and a …

Detecting plasma SHOX2, HOXA9, SEPTIN9, and RASSF1A methylation and circulating cancer cells for cholangiocarcinoma clinical diagnosis and monitoring.

BACKGROUND: Cholangiocarcinoma (CCA), also known as bile duct cancer, is a devastating malignancy primarily affecting the biliary tract. AIM: To assess their performance in clinical diagnosis and monitoring of CCA, plasma methylation and circulating tumor cells were detected. METHODS: Plasma samples were collected from Hubei Cancer Hospital (n = 156). Plasma DNA was tested to detect SHOX2, HOXA9, SEPTIN9, and RASSF1A methylation using TaqMan PCR. Circulating tumor cells (CTCs) were detected in the peripheral blood of patients using the United States Food and Drug Administration-approved cell

Successful cetuximab rechallenge in metastatic colorectal cancer: A case report.

BACKGROUND: Metastatic colorectal cancer (mCRC) treatment has been evolving and increasingly driven by tumor biology and gene expression analysis. Rechallenge with epidermal growth factor receptor (EGFR) inhibitors (anti-EGFR) represents a promising strategy for patients with RAS wild-type (RAS-wt) mCRC and circulating tumor DNA has emerged as a potential selection strategy. Herein, we report the case of a RAS-wt mCRC patient who had a successful response to cetuximab rechallenge. CASE SUMMARY: Our patient was diagnosed with stage IV RAS-wt, microsatellite-stable rectosigmoid junction adenoca…

Emergence of Liquid Biopsy in Precision Oncology: A Review of its diagnostic, Predictive and Therapeutic Applications in Gallbladder Cancer.

BACKGROUND: Gallbladder cancer (GBC) is associated with a poor prognosis due to the challenges in early diagnosis. The gallbladder's anatomical constraints make it difficult to obtain tumor tissue for histological analysis and diagnostic monitoring. Consequently, liquid biopsy (LB) has emerged as a vital technique for minimally invasive extraction of tumor-derived materials. This review explores various non-invasive methods for GBC screening, with a particular focus on liquid biopsy. METHODS: A comprehensive search was conducted on PubMed, Scopus, Web of Science, and Google Scholar for articl

Liquid biopsy in CNS tumors: Current status & future perspectives.

Precise classification of central nervous system (CNS) malignancies is vital for the treatment and prognostication. Identification of noninvasive markers can be of importance to guide treatment decisions and in monitoring treatment response. CNS tumors are classified based on morphology with an essential complement of molecular changes, including mutations, amplifications, and methylation. Neuroimaging is the mainstay for initial diagnosis and monitoring tumor response with obvious limitations of imprecise tumor typing and no information on diagnostic, predictive and prognostic markers. Liquid

Detection of Gene Mutations in Liquid Biopsy of Melanoma Patients: Overview and Future Perspectives.

Liquid biopsies are still far from widely implanted in the clinical arena. Issues related to the added sensitivity of this test beyond conventional methods have not been fully resolved. Additionally, issues related to the specificity of these results especially as many cancers may share common mutation need further investigations. One way to resolve this may include the development and testing of large gene panels to add higher specificity. On the other hand, further studies are needed to support the idea that ctDNA or circulating tumor cells may constitute a better representation of the tumor

Single-cell profiling reveals distinct populations of tumor-associated macrophages and metastatic tumor cells in breast cancer brain metastasis.

Breast cancer brain metastasis (BCBM) is a major cause of breast cancer-related mortality, but the molecular mechanisms underlying its progression remain poorly understood. Here, we profiled the tumor immune microenvironment of BCBM at single-cell resolution and identified candidate regulators associated with brain metastatic progression. Single-cell RNA sequencing (scRNA-seq) was performed on brain metastatic tissue, adjacent tumor tissue, cerebrospinal fluid, and circulating tumor cells (CTCs) from seven patients, and bulk DNA sequencing was conducted on primary breast tumors, peripheral blo

O6-Methylguanine-DNA Methyltransferase (MGMT) Promoter Methylation-Guided Irinotecan-Based Therapy in Metastatic Colorectal Cancer: A Case Report.

The management of metastatic colorectal cancer (mCRC) has evolved toward precision oncology, integrating molecular biomarkers to guide thera … iplatin (CAPOX) resulted in disease progression following initial disease stabilization. Subsequent circulating tumor DNA (ctDNA) analysis identified MGMT promoter methylation, suggesting impaired DNA repair capacity. In the absence of actionable genomic targets, second-line therapy with capecitabine and irinotecan (CAPIRI) and cetuximab was initiated. This approach yi …

Neoadjuvant Therapy in Muscle-Invasive Bladder Cancer: Current Evidence, Evolving Strategies, and Future Directions.

Neoadjuvant therapy is now a cornerstone of muscle-invasive bladder cancer management, evolving from traditional cisplatin-based chemotherapy to novel immunotherapy and antibody-drug conjugate combinations. While dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin remains the cytotoxic standard, the phase III NIAGARA and KEYNOTE 905 trials have established new benchmarks for cisplatin-eligible and ineligible populations, respectively. Furthermore, the integration of molecular subtyping, DNA damage repair biomarkers, and liquid biopsies (circulating tumor DNA) is facilitating a shi…

Advances in the Diagnosis and Treatment of Leptomeningeal Disease.

PURPOSE OF REVIEW: Leptomeningeal disease (LMD) is a rare, late complication of systemic cancer and is associated with significant neurological morbidity and high mortality. Here we provide an overview of this condition, summarizing key recent research findings and clinical practice trends in its diagnosis and treatment. We also review current clinical trials for LMD. RECENT FINDINGS: Improved molecular diagnostic tools are in development to enable more sensitive detection of LMD, including circulating tumor cells and circulating tumor DNA. The use of targeted and CNS-penetrant therapeutics h…

Liquid biopsies for detection, characterization, and interception of therapy resistance in thoracic malignancies.

Therapy resistance remains a leading cause of treatment failure and mortality in thoracic malignancies, despite major advances in targeted t … , we highlight recent advances in liquid biopsy applications for thoracic malignancies, focusing on circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) as complementary analytes for baseline molecular profiling, detection of primary and acquired resistance to therapy, and identification of minimal residual disease and molecular relapse. Beyond mutation-bas …

Decoding ctDNA: biological insights for accurate clinical interpretation.

Circulating tumor DNA (ctDNA) is a key component of liquid biopsy and has emerged as one of the most promising biomarkers. However, the clinical value of ctDNA depends directly on the biological mechanisms that govern its release and persistence within the circulation. In this review, we provide an overview of the current understanding of ctDNA biology and its clinical implications. We describe the mechanisms of ctDNA shedding and clearance, as well as the factors that influence its dynamic balance. We discuss the role of ctDNA as a tumor biomarker, but also the hypothesis that ctDNA may also …

Dissecting cell-free DNA fragmentation variation in tumors using cell line-derived xenograft mouse.

Cell-free DNA (cfDNA) is increasingly studied for its diverse applications in non-invasive detection. Non-randomly cleaved by nucleases and … ered cfDNA fragmentation profiles in tumors, which consist of a mixture of both non-tumor cfDNA and circulating tumor DNA (ctDNA). Hence, we leveraged the human tumor cell line-derived xenograft (CDX) mouse model, where different tumor cell lines were implanted into different anatomical sites, to isolate pure ctDNA and separately investigate the fragment properties of …

ctDNA monitoring using tumor-informed copy number analysis.

Methods to detect circulating tumor DNA (ctDNA) enable minimally invasive responsive monitoring of cancer dynamics. However, sensitive and cost-effective methods are still lacking. Current methods for detecting cancer signals in shallow whole-genome sequencing (sWGS) data from cell-free DNA (cfDNA) via copy number aberration (CNA) analysis typically have a limit of detection of approximately 3% tumor fraction (TF). We developed informCNA, a bioinformatics method that leverages CNA information from sWGS of tumor or pre-treatment plasma samples with high TF as references, enabling ctDNA detectio…

Utility of blue-light cystoscopy and tumor-informed ctDNA for management of recurrent high-risk NMIBC with prostatic urethral involvement: A case report.

Non-muscle-invasive bladder cancer (NMIBC) with prostatic urethral involvement (PUI) is rare and difficult to manage, especially after intravesical therapy or pelvic radiation. We report a 78-year-old man with recurrent high-risk NMIBC and PUI after bacillus Calmette-Guérin and mitomycin C. Blue-light cystoscopy (BLC) during restaging identified additional carcinoma in situ and high-grade T1 disease not seen with white light. Histopathology showed no stromal invasion, and tumor-informed circulating tumor DNA (ctDNA) testing was negative, indicating no molecular residual disease. Despite favora…

Clinical validation of a tissue-agnostic genome-wide methylome enrichment assay to monitor response to pembrolizumab.

Immunotherapy has significantly improved the treatment of metastatic solid tumors; however, detecting early signs of response to enable timely intervention for resistant tumors remains challenging. A blood-only circulating tumor DNA (ctDNA) test may provide a rapid assessment of tumor response without reliance on matched tumor tissue. We applied a tissue-agnostic, genome-wide methylation enrichment assay, based on cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq), to plasma samples from patients in a phase 2 trial evaluating pembrolizumab across multiple…