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Longitudinal Tumor Mutation Burden Dynamics in Advanced Prostate Cancer Using Circulating Tumor DNA Profiling.

BACKGROUND: Circulating tumor DNA (ctDNA) genomic testing is increasingly used in advanced prostate cancer (aPC) to identify actionable alterations, however the longitudinal nature of tumor mutation burden (TMB) remains poorly characterized. Current guidelines recommend somatic testing at diagnosis of metastatic hormone-sensitive or castration-resistant disease, but do not address serial testing. While prior studies suggest modest increases in TMB with advanced disease, longitudinal trends and treatment-associated changes have not been systematically examined. Here we evaluate how TMB changes …

Circulating Tumor DNA Testing in Solid Tumors and Lymphoma: ASCO Guideline.

UNLABELLED: ASCO Guidelines provide recommendations with comprehensive review and analyses of the relevant literature for each recommendatio … disclaimer in Appendix 1 and 2 (online only) for more. PURPOSE: To provide guidance on the use of circulating tumor DNA (ctDNA) testing in patients with solid tumors or lymphoma. METHODS: A systematic review by a multidisciplinary panel with patient representation was conducted. The PubMed database was searched from January 2017 to February 2025. Guideline recommend …

The role of circulating tumor DNA in melanomas of the uveal tract.

Melanoma of the uveal tract or uveal melanoma (UM) originates from melanocytes of the eye and is the most common intraocular malignancy in a … t outcome. Recently, advances in minimally-invasive liquid biopsy techniques and biomarkers such as circulating tumor DNA (ctDNA) have demonstrated potential to transform the field of cancer care by aiding diagnosis, prognosis and monitoring of various cancer types. UM is particularly suitable for ctDNA-based approaches due to the relatively well-characterized spectrum …

Circulating tumor DNA in neoadjuvant endocrine therapy for early breast cancer.

BACKGROUND: Neoadjuvant endocrine therapy (NET) is used in hormone receptor (HR)-positive, HER2-negative breast cancer to reduce tumor burden before surgery. However, robust biomarkers to predict benefit from NET are lacking. PATIENTS AND METHODS: We evaluated the potential of circulating tumor DNA (ctDNA) before treatment and the dynamics during NET to guide treatment decisions for patients receiving NET. In this retrospective analysis, ctDNA before and after NET from patients enrolled in the phase II PELOPS trial, was assessed using the tissue-free Guardant Reveal assay. RESULTS: ctDNA was…

Циркуляция ДНК опухоли в Множественной миеломе: текущие понимания и перспективы на будущее.

Циркуляция ДНК опухоли (ctDNA) стала многообещающим минимально инвазивным биомаркером во множестве миеломы (ММ), обеспечивающим динамическое понимание бремени опухоли, клональной эволюции и молекулярной неоднородности. В отличие от традиционной диагностики на основе костного мозга, анализ CtDNA обеспечивает системный подход к оценке заболеваний и может лучше отражать пространственно неоднородные и внематочные заболевания. Последние достижения в области высокочувствительных молекулярных методов, включая цифровую цепную реакцию с капельной полимеразой и последовательность следующего поколения, п

Совпадение в аннотации оригинала
Circulating tumor DNA (ctDNA) has emerged as a promising minimally invasive biomarker in multiple myeloma (MM), providing dynamic insight into tumor burden, clonal evolution and molecular heterogeneity. Unlike conventional bone marrow-based diagnostics, ctDNA analysis offers a systemic approach to disease assessment and may better reflect spatially heterogen…

Determinants of Circulating Tumor HPV DNA in Surgically Treated Oropharyngeal Cancer.

IMPORTANCE: Circulating tumor DNA (ctDNA) is a biomarker of disease status in patients with human papillomavirus (HPV)-mediated oropharyngeal squamous cell carcinoma (OPSCC). OBJECTIVE: To assess clinicopathologic variables associated with circulating tumor human papillomavirus DNA (ctHPVDNA) before and after surgery. DESIGN, SETTING, AND PARTICIPANTS: The retrospective review and cohort study was conducted at a tertiary academic medical center and included patients with HPV-mediated OPSCC who were treated with upfront surgery between September 2021 and April 2025. Data were analyzed between…

Circulating Tumor DNA in Urothelial Cancer: Practical Applications in Oncology Clinic.

Circulating tumor DNA (ctDNA) is increasingly being used to monitor minimal residual disease (MRD) in various solid tumors, including urothelial carcinoma (UC). It has emerged as a promising biomarker for MRD and may serve as a valuable tool to guide treatment decisions, particularly in patients at high risk of recurrence after definitive therapy or those experiencing favorable responses to systemic therapy in the setting of locally advanced or metastatic disease. ctDNA technology is largely agnostic to the type of tumor, which can be either hematologic or solid organ malignancies. Its clinica…

Feasibility of Circulating Tumor DNA Analysis in Patients with Follicular Lymphoma.

PURPOSE: The feasibility of sequencing circulating tumor DNA (ctDNA) in plasma as a biomarker to predict early relapse or poor prognosis in patients with follicular lymphoma (FL) receiving systemic immunochemotherapy is not clear. MATERIALS AND METHODS: We sequenced DNA from cell-free plasma that was serially obtained from newly diagnosed FL patients undergoing systemic immunochemotherapy. The mutation profiles of ctDNA at the time of diagnosis and at response evaluation and relapse and/or progression were compared with clinical course and treatment outcomes. RESULTS: Forty samples from pati…

Monitoring Hepatocellular Carcinoma Using Tumor Content in Circulating Cell-Free DNA.

PURPOSE: The objective of the study was to evaluate the use of tumor content in circulating cell-free DNA (ccfDNA) for monitoring hepatocellular carcinoma (HCC) throughout its natural history. EXPERIMENTAL DESIGN: We included 67 patients with hepatitis B virus-related HCC, of whom 17 had paired pre- and posttreatment samples, and 90 controls. Additionally, in a prospective cohort with hepatitis B virus surface antigen-positive participants recruited in 2012 and followed up biannually with blood sample collections until 2019, we included 270 repeated samples before diagnosis from 63 participan

Circulating tumor HPV DNA as a specific biomarker for cervical cancer.

OBJECTIVE: The aim of this study was to determine whether circulating tumor human papillomavirus (HPV) DNA is a potential specific biomarker for cervical cancer (CC). METHODS: This retrospective matched study included 87 patients with cervical intraepithelial neoplasia (CIN), 29 CC patients (FIGO IA1-IVA) and 29 HPV-negative controls at Yuhuangding Hospital of Qingdao University (from July 2022 to September 2023). The digital droplet PCR (ddPCR) was used to detect and quantify ctHPV DNA in the plasma of patients with HPV16, 18, 33, 52, or 58-associated CC. RESULTS: The ctHPV DNA was exclusiv

Role of Circulating Tumor DNA Among Patients with Colorectal Peritoneal Metastases.

PURPOSE: This was a review of circulating tumor DNA (ctDNA) in patients with peritoneal metastases from colorectal cancer. METHODS: We searched the PubMed database for studies reporting detection of ctDNA in patients with colorectal cancer (CRC) and with peritoneal metastases (PM) from colorectal cancer (CRPM). We extracted data on the population included, number of subjects, study design, type of ctDNA assay used and schedule, and the major findings from these publications. RESULTS: We identified 13 studies for review investigating ctDNA, using a variety of ctDNA assays, among 1787 patients…

Circulating tumor DNA in NK/T and peripheral T cell lymphoma.

Natural killer (NK)/T-cell lymphomas (NK/TCL) and peripheral T-cell lymphomas (PTCL) are aggressive hematological malignancies. With the development of next-generation sequencing, circulating tumor DNA (ctDNA) can be detected by several techniques with clinical implications. So far, the effect of ctDNA in pretreatment prognosis prediction, longitudinal monitoring of treatment response and surveillance of long-term remission or relapse in NK/TCL and PTCL has been reported in several researches.

Personalized Detection of Circulating Tumor DNA Antedates Breast Cancer Metastatic Recurrence.

PURPOSE: Up to 30% of patients with breast cancer relapse after primary treatment. There are no sensitive and reliable tests to monitor these patients and detect distant metastases before overt recurrence. Here, we demonstrate the use of personalized circulating tumor DNA (ctDNA) profiling for detection of recurrence in breast cancer. EXPERIMENTAL DESIGN: Forty-nine primary patients with breast cancer were recruited following surgery and adjuvant therapy. Plasma samples (n = 208) were collected every 6 months for up to 4 years. Personalized assays targeting 16 variants selected from primary t…

Circulating tumor DNA: clinical roles in diffuse large B cell lymphoma.

Diffuse large B cell lymphoma (DLBCL), the most common non-Hodgkin lymphoma (NHL), is a clinically and molecularly heterogeneous malignant lymphoproliferative disease. In the era of personalized medicine, genetic information is critical to early diagnosis, aiding risk stratification, directing therapeutic option, and monitoring disease relapse. However, lacking a circulating disease with most DLBCL cases hampers the acquisition of tumor genomic landscapes and disease dynamics. Circulating tumor DNA (ctDNA) is a novel noninvasive, real-time, and tumor-specific biomarker, reliably reflecting the…

Circulating Tumor DNA to Monitor Therapy for Aggressive B-Cell Lymphomas.

The goal of therapy for aggressive B-cell lymphomas such as diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) is to achieve cu … cificity. Novel sequencing-based DNA monitoring methods are capable of quantifying small amounts of circulating tumor DNA (ctDNA) before, during, and after therapy for mature B-cell lymphomas. Detection of ctDNA encoding clonal rearranged variable-diversity-joining (VDJ) receptor gene sequences has demonstrated improved analytical sensitivity and enhanced tumor specifi …

Circulating Tumor DNA as a Biomarker for Melanoma Prognosis and Therapy.

With more than 300,000 new cases diagnosed in 2022 and a projected rise in incidence until the year 2040, malignant melanoma remains a major … nalysis of circulating cell-free nucleic acids from the tumor released to the blood, referred to as circulating tumor DNA (ctDNA), has emerged as a minimally invasive approach capable of capturing tumor-derived molecular information from plasma in solid tumors. ctDNA holds promise as a tool for the detection of minimal residual disease (MRD), early relapse, clonal evol …

Potential of Circulating Tumor DNA for the Management of Patients With Lymphoma.

The characterization of circulating tumor-derived DNA (ctDNA) has recently emerged in the field of oncology as a powerful method to identify tumor-specific genetic aberrations using peripheral blood testing. Several technical precautions are needed at the pre-analytic stage (given the short half-life of free nucleic acids in plasma), and numerous techniques-with different sensitivities-are available to identify these molecular aberrations, ranging from the detection of single point mutations to extended genetic screening panels. Although a "liquid biopsy" cannot be substituted for the patholog

Circulating Cell Free DNA in the Diagnosis of Trophoblastic Tumors.

Gestational trophoblastic neoplasia (GTN) represents a group of diseases characterized by production of human chorionic gonadotropin (hCG). … DNA from the patient, genomic DNA from her and her partner and DNA from the tumor tissue identified circulating tumor DNA (ctDNA) (from 9% to 53% of total cfDNA) in 12 of 20 patients with GTN. In one case without a tissue diagnosis, ctDNA enabled a diagnosis of GTN originating in a non-molar conception and in another a diagnosis of non-gestational tumor, based on the h …

Individualized circulating tumor DNA monitoring in two dogs with malignant melanoma.

Circulating tumor DNA (ctDNA) consists of genomic DNA fragments shed by tumor cells into the bloodstream that contain the same mutations present in the primary tumor. In human medicine, ctDNA has been utilized as a liquid biopsy tool and a noninvasive biomarker for the early diagnosis, prognosis, and management of several tumors. This study explored the utility of ctDNA monitoring using digital polymerase chain reaction (dPCR) during follow-up in two dogs with oral malignant melanoma. Whole-exome sequencing was performed to identify patient-specific tumor mutations, and dPCR probes designed fo…