bims-ovdlit 2025-10-26 papers

Issue of 2025–10–26
three papers selected by
Lara Paracchini, Humanitas Research

Gynecol Oncol. 2025 Oct 23. pii: S0090-8258(25)01019-4. [Epub ahead of print]203 26-34

Extracellular vesicle and particle-based blood test for ovarian cancer screening of average risk population: a promising nested case control study using preclinical samples.

PURPOSE: Current ovarian cancer (OC) screening methods lack sufficient sensitivity to detect early-stage disease. We evaluated an immuno-PCR blood test measuring tumor-associated extracellular vesicles and particles (EVPs) in preclinical samples from average-risk women that participated in the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS).
PATIENTS AND METHODS: We conducted a blinded case-control study nested within the ultrasound and no-screening arms of UKCTOCS. Cases were women diagnosed with OC within 36 months of sample collection. Invasive epithelial cancer cases were matched 1:10 by age (±2 years) to controls without OC. Abnormal thresholds were based on previously established 98 % specificity cut-offs for the EVP-based test and a research CA125 assay. Primary outcomes were sensitivity and specificity for detecting high-grade serous carcinoma (HGSC) using samples processed within 28 h and collected up to 12 months before diagnosis.
RESULTS: The EVP-based test demonstrated a sensitivity of 82.9 % (95 % CI: 68.7-91.5 %) in 41 HGSC cases and specificity of 97.7 % (95 % CI: 96.7-98.5 %) in 1176 controls. CA125 sensitivity and specificity were 68.3 % (95 % CI: 53.0-80.4 %; p = 0.082) and 95.6 % (95 % CI: 94.2-96.6 %; p = 0.005), respectively. For stage I/II HGSC, EVP-based test sensitivity was 88.9 % (8/9, 95 % CI: 56.5-98.0 %), compared to 55.6 % (5/9, 95 % CI: 26.7-81.1 %) for CA125 (p = 0.149).
CONCLUSIONS: The EVP-based blood test exhibits high sensitivity and specificity in detecting HGSC in preclinical samples, supporting its further evaluation as a potential annual screening tool for OC in average-risk women.

Keywords: Early detection; Extracellular vesicles and particles; Ovarian cancer; Screening; UKCTOCS

DOI: https://doi.org/10.1016/j.ygyno.2025.10.003

Cell Rep. 2025 Oct 22. pii: S2211-1247(25)01226-4. [Epub ahead of print]44(11): 116455

Integrating mutation, copy number, and gene expression data to identify driver genes of recurrent chromosome-arm losses.

Ron Saad, Ron Shamir, Uri Ben-David.

Aneuploidy is a hallmark of cancer, yet the genes driving recurrent chromosome-arm losses remain largely unknown. We present a systematic framework integrating mutation, copy number, and gene expression data to identify candidate driver genes of cancer type-specific recurrent chromosome-arm losses across 20 cancer types, using ∼7,500 tumors from The Cancer Genome Atlas. By analyzing focal deletions and point mutations that co-occur, or are mutually exclusive, with chromosome-arm losses, we pinpoint 322 candidate drivers associated with 159 recurring events. Our approach identifies known aneuploidy drivers such as TP53 and PTEN, while revealing multiple additional candidates, including tumor suppressors not previously linked to aneuploidy. We leverage expression changes associated with chromosome-arm losses to propose cancer-promoting pathway-level alterations. Integrating these findings highlights key candidate drivers that underlie the observed expression alterations, reinforcing their biological relevance. We provide a comprehensive catalog of candidate driver genes for recurrently lost chromosome-arms in human cancer.

Keywords: CP: Cancer; CP: Genomics; aneuploidy; cancer genomics; chromosomal instability; copy number alterations; driver genes; gene expression; mutations

DOI: https://doi.org/10.1016/j.celrep.2025.116455

Nature. 2025 Oct 22.

Here there be.

Carl Goodman.

Keywords: Arts; Culture

DOI: https://doi.org/10.1038/d41586-025-03257-4