bims-ovdlit Biomed News
on Ovarian cancer: early diagnosis, liquid biopsy and therapy
Issue of 2024‒08‒04
three papers selected by
Lara Paracchini, Humanitas Research



  1. Cell Rep Med. 2024 Jul 25. pii: S2666-3791(24)00380-X. [Epub ahead of print] 101666
      Epithelial ovarian cancer (EOC) is the deadliest women's cancer and has a poor prognosis. Early detection is the key for improving survival (a 5-year survival rate in stage I/II is over 70% compared to that of 25% in stage III/IV) and can be achieved through methylation markers from circulating cell-free DNA (cfDNA) using a liquid biopsy. In this study, we first identify top 500 EOC markers differentiating EOC from healthy female controls from 3.3 million methylome-wide CpG sites and validated them in 1,800 independent cfDNA samples. We then utilize a pretrained AI transformer system called MethylBERT to develop an EOC diagnostic model which achieves 80% sensitivity and 95% specificity in early-stage EOC diagnosis. We next develop a simple digital droplet PCR (ddPCR) assay which archives good performance, facilitating early EOC detection.
    Keywords:  cfDNA; early cancer detection; liquid biopsy; methylation; neuronal network; ovarian cancer; transformer
    DOI:  https://doi.org/10.1016/j.xcrm.2024.101666
  2. Lancet Oncol. 2024 Aug;pii: S1470-2045(24)00401-7. [Epub ahead of print]25(8): 945
      
    DOI:  https://doi.org/10.1016/S1470-2045(24)00401-7
  3. Nat Rev Genet. 2024 Jul 29.
      Chromosomal instability (CIN) refers to an increased propensity of cells to acquire structural and numerical chromosomal abnormalities during cell division, which contributes to tumour genetic heterogeneity. CIN has long been recognized as a hallmark of cancer, and evidence over the past decade has strongly linked CIN to tumour evolution, metastasis, immune evasion and treatment resistance. Until recently, the mechanisms by which CIN propels cancer progression have remained elusive. Beyond the generation of genomic copy number heterogeneity, recent work has unveiled additional tumour-promoting consequences of abnormal chromosome segregation. These mechanisms include complex chromosomal rearrangements, epigenetic reprogramming and the induction of cancer cell-intrinsic inflammation, emphasizing the multifaceted role of CIN in cancer.
    DOI:  https://doi.org/10.1038/s41576-024-00761-7