Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “cancer diagnostics”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed2026

Genomic profiling as an option for ovarian cancer diagnostics.

INTRODUCTION: Ovarian cancer (OC) is a highly heterogeneous and lethal gynecological malignancy. Precision oncology has shifted the management paradigm to comprehensive molecular profiling. Genomic-based diagnostics are now a clinical necessity for accurate prognostic stratification and the rational selection of targeted therapeutics, such as PARP and immune checkpoint inhibitors. AREAS COVERED: This review evaluates current literature regarding the distinct genomic landscapes defining OC histotypes to underlined the role of molecular profiling in the diagnostic field of OC. We discuss the practical implementation, technical aspect, and clinical validity of the main molecular diagnostic platforms, focusing on tissue-based Comprehensive Genomic Profiling (CGP) and Homologous Recombination Deficiency (HRD). Furthermore, we explore emerging translational data on liquid biopsy (LBx) applications. EXPERT OPINION: While current tissue-based methodologies provide critical baseline data, the OC diagnostic paradigm must pivot from static testing to proactive and longitudinal tracking. Integrating advanced LBx approaches enables a real-time monitoring of dynamic parameters as minimal residual disease (MRD) and acquired resistance. Integrating these dynamic blood-based assays with multi-omic profiling and artificial intelligence (AI)-driven tools allows a full understanding of the complex tumor behavior.

Humans↗
PubMed1978

The bone marrow examination in breast cancer: diagnostic considerations and clinical usefulness.

Bone marrow examinations were performed on 116 women with primary and metastatic breast cancer and were correlated with the clinical status of the patient and other specific diagnostic modalities. The relative diagnostic efficacy of the marrow biopsy, aspirate smear and clot section was examined, as was the value of serial marrow examinations. A marrow positive for tumor was found in 40% of those with metastatic disease, 55% with positive x-rays, 56% with positive bone scans, but only 4% (1/24) with both scan and x-ray normal. Routine hematologic parameters were of limited usefulness in predicting the finding of a positive marrow. The biopsy was superior to the smear and clot section but aspirated material also had to be analyzed to maximize diagnostic yield. When analyzed qualitatively, i.e., positive or negative for tumor, serial marrow examinations were not useful in assessing the efficacy of antitumor treatment. The potential usefulness of bone marrow examination in patients with breast cancer is discussed.

Biopsy, Needle↗
PubMed1976

The scientific base and challenge of cancer diagnostic research.

A multi-approach study of the diagnosis of the common malignancies is underway. Screening of asymptomatic patients and early diagnosis, with the aid of new and sophisticated methodologies may arrive at the diagnosis of cancer at an earlier stage (i.e., before the tumor has metastasized). Table 2 summarizes many of the newer methods which might be incorporated into such a study.

Breast Neoplasms↗
PubMed2025

Construction and accuracy assessment of an efferocytosis-related prognostic model for ovarian cancer: A diagnostic accuracy study.

The study aimed to investigate the prognostic significance of efferocytosis-related genes in ovarian cancer (OC) with regard to cancer development, progression, invasion, and metastasis. OC cohorts were assembled from bioinformatics repositories. Utilizing consensus clustering analysis, distinct clusters were delineated based on the intersection of OC-related genes and efferocytosis-related genes. A prognostic signature specific to efferocytosis in OC was developed using data from The Cancer Genome Atlas, validated against the gene expression omnibus database, and subjected to independent prognostic analysis. Subsequently, a nomogram model was formulated. Moreover, investigations encompassed the immune microenvironment, immunotherapy, mutation profiling, drug sensitivity assessments, drug prediction models, and molecular docking analyses. Finally, quantitative reverse transcription polymerase chain reaction (qRT-PCR) assays were employed to ascertain the mRNA expression levels of key genes. Five key genes, FCGBP, BTN3A3, WDR91, SLC25A45, and BTNL3, were identified as significantly associated with OC. Both datasets and qRT-PCR demonstrated elevated expression levels of FCGBP and WDR91 in OC. Notably, AFLATOXIN B1 exhibited strong binding affinity to SLC25A45, ciclopirox to BTN3A3, and irinotecan to WDR91. The risk score, age, and stage were identified as independent prognostic factors, with the nomogram displaying efficacy in predicting OC patient survival. Variations in the immune cell infiltration profiles, including naive B cells, and expression levels of 6 immune checkpoint genes, such as CTLA4, were notable. High tumor mutation burden scores were associated with improved survival outcomes. Additionally, significant differences in the IC50 values of 123 anticancer drugs were observed between the 2 risk groups. This findings of this study highlight the efficacy of the efferocytosis-associated risk model in predicting the survival outcomes of OC patients, thus providing a novel reference for prognostic prediction in OC patients.

Humans↗
PubMed1979

Early detection of ductal breast cancer: the diagnostic procedure for pathological discharge from the nipple.

Pathologic discharge from the nipple may be the only symptom of an early stage of carcinoma. Galactography is then the diagnostic method of choice to locate intraductal, nonpalpable lesions. The technique of galactography, the adequate surgical approach of pathologic galactographs (milk-duct segment resection), and the appropriate histological work-up of the surgical specimen are demonstrated. We report on 1918 galactographies in 1363 women with pathological discharge. In only 427 cases was a milk duct segment resection necessary (31.4%). In 8.5%, we found invasive intraductal cancer and in 2.9% ductal carcinomata in situ. Only 1 patient with breast cancer had axillary metastases. Extensive intraductal solid, papillary or adenomatous proliferations were found in 11.9% of the patients with excision. In 46.7% of the patients, papillomas were excised, a definitive treatment for this process. The supposition for success in the early diagnosis of cancer is close teamwork among the radiology, surgery and pathology services: the diagnostic result depends upon this. We attribute our yield of exact diagnosis to a very sophisticated histological work-up. We believe that this is necessary to avoid diagnostic failures.

Biopsy↗
PubMed2026

Mapping the de-implementation of traditional diagnostic tests in pediatric acute lymphoblastic leukemia.

INTRODUCTION: Advances in cancer diagnostics raise questions about when and how to de-implement traditional approaches; however, these processes remain poorly described. At St. Jude Children's Research Hospital (SJCRH), routine conventional cytogenetics for pediatric acute lymphoblastic leukemia (ALL) diagnosis was de-implemented in 2018 following adoption of clinical genomics. This study aimed to map this process to inform future diagnostic de-implementation initiatives. METHODS: Interviews were conducted with SJCRH staff involved or impacted by cytogenetics de-implementation. Data were analyzed using thematic and rapid qualitative analysis informed by the Consolidated Framework for Implementation Research. Member-checking was used to verify and refine process maps, which were subsequently reviewed by an external expert panel, representing diverse settings, through focus group discussions. RESULTS: Thirteen SJCRH clinicians participated. De-implementation was described as successful, with no negative impact on patient outcomes. Decision-making began with internal correlation studies that demonstrated superior diagnostic performance of clinical genomics. De-implementation was viewed as a natural evolution that improved molecular classification, resource allocation, and workflow efficiency. Perceived risks included loss of cytogenetics competency, delayed turnaround time, and career insecurity, all addressed institutionally. Lessons learned highlighted the importance of deliberate discussion about logic and evidence supporting de-implementation. Fifteen external experts offered suggestions to improve process map generalizability, highlighting institutional- and system-level considerations. CONCLUSION: De-implementation of cytogenetics in ALL in favor of clinical genomics was successful at SJCRH. This study offers an example of diagnostic de-implementation in cancer care and proposes a structured approach to guide future efforts. De-implementation should be considered alongside introduction of novel diagnostic approaches.

cancer diagnostics↗
PubMed2026

Mechanism-Driven Diagnostic Development: A Specimen-Aware Framework Illustrated by Colorectal Cancer and Solid Tumours.

Translational oncology has moved rapidly from histopathology and single-analyte biomarkers toward multi-dimensional molecular profiling. Yet many clinically deployed tests still use reductionist biomarker strategies that under-represent cancer complexity. This review examines whether a mechanistic, multi-layered, and specimen-aware approach can improve cancer detection, classification, prognosis, minimal residual disease (MRD) assessment, and therapeutic selection. Evidence across solid tumours shows that genomic alterations alone incompletely explain tumour state, metastatic behaviour, immune evasion, or therapeutic vulnerability. Integrated genome and transcriptome analyses, proteogenomics, single-cell atlases, fragmentomic, methylation based cell-free DNA assays, metabolomics and microbiome assessments reveal clinically relevant biology that single modality tests cannot determine. Minimally invasive collected specimens can extend access to screening, diagnosis and longitudinal monitoring, but the choice of specimen should be matched to disease biology and analytes that represent mechanisms of oncogenesis. However, translation remains constrained by pre-analytical variability, contamination, differences in tumour shedding behaviour, clonal haematopoiesis, translation of generated models, incomplete external validation and uncertain downstream clinical utility for emerging platforms. This review provides a commentary on the future of cancer diagnostics, the considerations and barriers to clinical translation, the relationship between utility and dimensionality of biomarkers assessed and the emerging rationale towards mechanistically grounded integrated models.

biomarkers↗
PubMed2026

Colonoscopy and fecal immunochemical testing versus usual care in diagnostic colorectal cancer screening: the SCREESCO randomized controlled trial.

There is a need to quantify the benefits and harms of colorectal cancer (CRC) screening using primary colonoscopy or fecal immunochemical testing (FIT) compared with usual care with no screening. Guidelines recommend screening in individuals aged 50-75 years using colonoscopy or FIT, and many screening programs use one-sample biennial FIT. Here we compare incidence of diagnosed CRCs and gastrointestinal and cardiovascular events between screening and usual care during the diagnostic phase of the SCREESCO trial. A randomized block method (no masking) assigned 278,280 individuals aged 60 years to once-only colonoscopy, 2 rounds of two-stool FIT with a low cutoff (10 μg g-1 feces) or usual care (control group) in a ratio of 1:6 for colonoscopy versus control and 1:2 for FIT versus control. In the analysis, 31,113 individuals were in the primary colonoscopy arm and 60,267 were in the FIT arm, and there were 186,671 primary colonoscopy controls, of whom 120,521 were also controls for comparison with the FIT arm. After a median follow-up of 4.8 years, the incidence rate of CRC was 107.9 in the colonoscopy arm and 99.9 in controls per 100,000 person-years (incidence rate ratio (IRR): 1.08, 95% confidence interval (CI): 0.91-1.28) and 96.0 in the FIT arm and 103.9 in controls (IRR: 0.92, 95% CI: 0.81-1.05). Rates of stage I-II CRC were higher in the colonoscopy arm (IRR: 1.38, 95% CI: 1.09-1.74) and in the FIT arm (IRR: 1.19, 95% CI: 0.99-1.43) versus controls. Rates of cardiovascular and gastrointestinal events were slightly higher in the intervention arms during the first year and were subsequently more similar to controls. Our findings of an increase in CRC detection implies a benefit of screening while the increase in adverse events suggests some initial harm. ClinicalTrials.gov: NCT02078804 .

Humans↗
PubMed1979

[Early stomach cancer: new diagnostic and therapeutic aspects].

Gastroscopy is the diagnostic measure of choice in early recognition of gastric carcinoma, offering an accuracy rate of 96-99. However, this goal can only be achieved when biopsies are taken with forceps and snare from all circumscribed lesions which may hide a carcinoma. The common association with hyperplasiogenic polyps (15/86), adenoma and borderline lesion (7/86) and synchronous gastric carcinoma (8/86) request a subtle preoperative diagnosis if one does not perform gastrectomy in principle. Endoscopic resection (5/86) or local excision (6/86) should be debated in carcinomas located close to the cardia, and in high-risk patients. 5-year-survival rates of the "Erlangen early gastric cancer registry", are in accordance with the excellent results reported in the Japanese literature.

Adenoma↗
PubMed1979

Early detection of ductal breast cancer: the diagnostic procedure for grouped microcalcifications.

Mammography and xeroradiography for grouped microcalcifications are considered the most effective diagnostic methods to detect occult breast carcinoma. Radiography must direct the surgeon to excise the nonpalpable area. The removal of the tissue with grouped microcalcifications must be confirmed by intraoperative radiological control. The histologic preparation must be guided by radiographic controls. Tissue with calcific deposits is examined by step sections. The diagnostic success depends upon the cooperation between the radiologist, the surgeon, and the pathologist. Our results from 1964 to 1977 have shown a frequency of 14.4% of occult carcinoma. Ductal or lobular carcinomata in situ have been diagnosed in 8.9%. In 9.9% of the patients, cystic disease with severe and atypical proliferations has been encountered.

Biopsy↗
PubMed2025

Discovery and performance of DNA methylation panels for cancer detection and classification in blood.

Examining DNA in a liquid biopsy for non-invasive cancer detection relies on identifying dilute signal in a high background. This study aims to identify DNA methylation biomarkers for multi-cancer detection. Utilizing large tissue datasets, we apply novel search algorithms to discover confined biomarker panels capable of distinguishing tumor from normal and determining the tissue of origin. We explore the applicability to blood-based testing using targeted methylation sequencing followed by machine learning classification. We present an 8-marker panel, which successfully predicts tumors across 14 types with a 91% average sensitivity, maintaining a low false positive rate (< 0.04%). Additionally, a panel of 39 CpG sites exhibits accuracies ranging from 69% to 98% for identifying tissue of origin. When tested on 114 patient plasma samples (colon, liver, pancreatic, prostate, and stomach cancer), the 8-marker panel obtains an AUC of 0.78 with a 78% sensitivity among 32 early-stage patients (stage I-II), and 60% overall. Using the 39-marker panel in a multi-class classification model selecting only the best match, 54% of tumor samples were on average correctly assigned to the tissue of origin, and up to 80% when allowing more inclusive criteria. Using a limited set of biomarkers, our work contributes to advancing non-invasive cancer diagnostics.

DNA methylation↗