bims-ovdlit Biomed News
on Ovarian cancer: early diagnosis, liquid biopsy and therapy
Issue of 2024–05–26
eight papers selected by
Lara Paracchini, Humanitas Research
  1. Ovarian Cancer Diagnosis and Prognosis Based on Cell-Free DNA Methylation.
  2. Racial and ethnic differences in epithelial ovarian cancer risk: an analysis from the Ovarian Cancer Association Consortium.
  3. Multi-cancer early detection (MCED) tests: prioritizing equity from bench to bedside.
  4. Enigma of Ovarian Cancer - Early detection Challenges and Solutions!
  5. Clinical characteristics and survival outcome of early-stage, high-grade, serous tubo-ovarian carcinoma according to BRCA mutational status.
  6. Fragmentomics features of ovarian cancer.
  7. The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences.
  8. Turning the tide of early cancer detection.
  1. Cancer Control. 2024 Jan-Dec;31:31 10732748241255548
    Ovarian Cancer Diagnosis and Prognosis Based on Cell-Free DNA Methylation.
    Yajuan Gao, Nanyang Zhou, Jie Liu.
      Background: Ovarian cancer stands as the deadliest malignant tumor within the female reproductive tract. As a result of the absence of effective diagnostic and monitoring markers, 75% of ovarian cancer cases are diagnosed at a late stage, leading to a mere 50% survival rate within five years. The advancement of molecular biology is essential for accurate diagnosis and treatment of ovarian cancer. Methods: A review of several randomized clinical trials, focusing on the ovarian cancer, was undertaken. The advancement of molecular biology and diagnostic methods related to accurate diagnosis and treatment of ovarian cancer were examined. Results: Liquid biopsy is an innovative method of detecting malignant tumors that has gained increasing attention over the past few years. Cell-free DNA assay-based liquid biopsies show potential in delineating tumor status heterogeneity and tracking tumor recurrence. DNA methylation influences a multitude of biological functions and diseases, especially during the initial phases of cancer. The cell-free DNA methylation profiling system has emerged as a sensitive and non-invasive technique for identifying and detecting the biological origins of cancer. It holds promise as a biomarker, enabling early screening, recurrence monitoring, and prognostic evaluation of cancer. Conclusions: This review evaluates recent advancements and challenges associated with cell-free DNA methylation analysis for the diagnosis, prognosis monitoring, and assessment of therapeutic responses in the management of ovarian cancers, aiming to offer guidance for precise diagnosis and treatment of this disease.
    Keywords:  DNA methylation; cell-free DNA; diagnosis; ovarian cancer; prognosis surveillance; response to therapy
    DOI:  https://doi.org/10.1177/10732748241255548
  2. Am J Epidemiol. 2024 May 21. pii: kwae076. [Epub ahead of print]
    Racial and ethnic differences in epithelial ovarian cancer risk: an analysis from the Ovarian Cancer Association Consortium.
    Nicola S Meagher, Kami K White, Lynne R Wilkens, Elisa V Bandera, Andrew Berchuck, Michael E Carney, Daniel W Cramer, Kara L Cushing-Haugen, Susan Jordan, Scott H Kaufmann, Nhu D Le, Malcolm C Pike, Marjorie Riggan, Bo Qin, Joseph H Rothstein, Linda Titus, Stacey J Winham, Hoda Anton-Culver, Jennifer A Doherty, Ellen L Goode, Celeste Leigh Pearce, Harvey A Risch, On Behalf Of The Aocs Group, Penelope M Webb, Linda S Cook, Marc T Goodman, Holly R Harris, Loic Le Marchand, Valerie McGuire, Paul D P Pharoah, Danja Sarink, Joellen M Schildkraut, Weiva Sieh, Kathryn L Terry, Pamela J Thompson, Alice S Whittemore, Anna H Wu, Lauren C Peres, Melissa A Merritt.
       BACKGROUND: Limited estimates exist on risk factors for epithelial ovarian cancer (EOC) in Asian, Hispanic, and Native Hawaiian/Pacific Islander (NHPI) women.
    METHODS: Participants included 1734 Asian (785 cases, 949 controls), 266 NHPI (99 cases, 167 controls), 1149 Hispanic (505 cases, 644 controls), and 24,189 White (9,981 cases, 14,208 controls) women from 11 studies in the Ovarian Cancer Association Consortium. Logistic regression models estimated odds ratios (ORs) and 95% confidence intervals (CIs) for risk associations by race and ethnicity.
    RESULTS: Heterogeneity in EOC risk associations by race and ethnicity (p ≤ 0.02) was observed for oral contraceptive (OC) use, parity, tubal ligation and smoking. We observed inverse associations with EOC risk for OC use and parity across all groups; associations were strongest in NHPI and Asian women. The inverse association for tubal ligation with risk was most pronounced for NHPI participants (OR=0.25, 95% CI 0.13-0.48), versus Asian and White participants, respectively (OR=0.68, 95% CI 0.51-0.90; OR=0.78, 95% CI 0.73-0.85).
    CONCLUSIONS: Differences in EOC risk factor associations were observed across racial and ethnic groups, which could in part be due to varying prevalence of EOC histotypes. Inclusion of greater diversity in future studies is essential to inform prevention strategies.
    Keywords:  ethnicity; ovarian cancer; race; risk factors
    DOI:  https://doi.org/10.1093/aje/kwae076
  3. Health Aff Sch. 2024 May;2(5): qxae039
    Multi-cancer early detection (MCED) tests: prioritizing equity from bench to bedside.
    Sarah J Miller, Jamilia R Sly, Christian Rolfo, Philip Mack, Augusto Villanueva, Melissa Mazor, Ellerie Weber, Jenny J Lin, Cardinale B Smith, Emanuela Taioli.
      Multi-cancer early detection (MCED) tests are blood-based tests designed to screen for signals of multiple cancers. There is growing interest and investment in examining the potential benefits and applications of MCED tests. If MCED tests are shown to have clinical utility, it is important to ensure that all people-regardless of their demographic or socioeconomic background-equitably benefit from these tests. Unfortunately, with health care innovation, such considerations are often ignored until after inequities emerge. We urge for-profit companies, scientists, clinicians, payers, and government agencies to prioritize equity now-when MCEDs are still being developed and researched. In an effort to avoid creating and exacerbating cancer inequities, we propose 9 equity considerations for MCEDs.
    Keywords:  MCED; cancer screening; health equity; liquid biopsy
    DOI:  https://doi.org/10.1093/haschl/qxae039
  4. J Midlife Health. 2024 Jan-Mar;15(1):15(1): 3-4
    Enigma of Ovarian Cancer - Early detection Challenges and Solutions!
    Yashodhara Pradeep.
      
    DOI:  https://doi.org/10.4103/jmh.jmh_52_24
  5. Gynecol Oncol. 2024 May 23. pii: S0090-8258(24)00220-8. [Epub ahead of print]187 170-177
    Clinical characteristics and survival outcome of early-stage, high-grade, serous tubo-ovarian carcinoma according to BRCA mutational status.
    Claudia Marchetti, Beyhan Ataseven, Anna M Perrone, Chiara Cassani, Robert Fruscio, Carolina M Sassu, Adriana I Apostol, Philipp Harter, Pierandrea De Iaco, Cristina Angela Camnasio, Malak Moubarak, Diana Giannarelli, Giovanni Scambia, Anna Fagotti.
       OBJECTIVE: To investigate the role of BRCA1/2 mutations in early ovarian cancer (eOC) (International Federation of Gynecology and Obstetrics FIGO 2014 stage I-II), and its impact on prognosis after relapse.
    METHODS: In this multicenter retrospective study, clinical and survival data from high-grade serous (HGS)-eOC patients at presentation and recurrence were compared according to BRCA status: BRCA-mutated (BRCAmut) vs. BRCA wild-type (BRCAwt).
    RESULTS: Among 191 HGS-eOC patients, 89 were BRCAmut and 102 BRCAwt. There was no significant difference according to the BRCA status in terms of Progression-Free Survival (PFS). A longer Overall Survival (OS) was found in BRCAmut patients. Stage I patients had significantly improved PFS vs stage II, regardless of BRCA status. At multivariate analysis, stage at diagnosis was the only variable with a significant effect on PFS. No factors were significantly relevant on OS, albeit younger age and BRCA mutation showed a slight impact. Post-Recurrence Survival (PRS) in the BRCAmut population was significantly improved compared with BRCAwt. At multivariate analysis, Secondary Cytoreductive Surgery was the strongest predictor for longer PRS, followed by PARPi maintenance at recurrence.
    CONCLUSIONS: BRCA-status is not a prognostic factor in early ovarian cancer regarding PFS. However, our data suggest a better prognosis after relapse in BRCAm population.
    Keywords:  BRCA mutation; Early stage; Ovarian cancer; PARP inhibitors
    DOI:  https://doi.org/10.1016/j.ygyno.2024.05.008
  6. Int J Cancer. 2024 May 20.
    Fragmentomics features of ovarian cancer.
    Xiaopei Chao, Zhentian Kai, Huanwen Wu, Jing Wang, Xiaojing Chen, Haiqi Su, Xiao Shang, Ruijue Lin, Lisha Huang, Hongsheng He, Jinghe Lang, Lei Li.
      Ovarian cancer (OC) is a major cause of cancer mortality in women worldwide. Due to the occult onset of OC, its nonspecific clinical symptoms in the early phase, and a lack of effective early diagnostic tools, most OC patients are diagnosed at an advanced stage. In this study, shallow whole-genome sequencing was utilized to characterize fragmentomics features of circulating tumor DNA (ctDNA) in OC patients. By applying a machine learning model, multiclass fragmentomics data achieved a mean area under the curve (AUC) of 0.97 (95% CI 0.962-0.976) for diagnosing OC. OC scores derived from this model strongly correlated with the disease stage. Further comparative analysis of OC scores illustrated that the fragmentomics-based technology provided additional clinical benefits over the traditional serum biomarkers cancer antigen 125 (CA125) and the Risk of Ovarian Malignancy Algorithm (ROMA) index. In conclusion, fragmentomics features in ctDNA are potential biomarkers for the accurate diagnosis of OC.
    Keywords:  differentiating; fragmentomics; machine learning; ovarian cancer; screening
    DOI:  https://doi.org/10.1002/ijc.34981
  7. Biomolecules. 2024 May 10. pii: 568. [Epub ahead of print]14(5):
    The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences.
    Carmela Scarano, Iolanda Veneruso, Rosa Redenta De Simone, Gennaro Di Bonito, Angela Secondino, Valeria D'Argenio.
      The understanding of the human genome has been greatly improved by the advent of next-generation sequencing technologies (NGS). Despite the undeniable advantages responsible for their widespread diffusion, these methods have some constraints, mainly related to short read length and the need for PCR amplification. As a consequence, long-read sequencers, called third-generation sequencing (TGS), have been developed, promising to overcome NGS. Starting from the first prototype, TGS has progressively ameliorated its chemistries by improving both read length and base-calling accuracy, as well as simultaneously reducing the costs/base. Based on these premises, TGS is showing its potential in many fields, including the analysis of difficult-to-sequence genomic regions, structural variations detection, RNA expression profiling, DNA methylation study, and metagenomic analyses. Protocol standardization and the development of easy-to-use pipelines for data analysis will enhance TGS use, also opening the way for their routine applications in diagnostic contexts.
    Keywords:  Oxford Nanopore Technologies; PacBio; RNA sequencing; epigenetics; genome sequencing; metagenomics; third-generation sequencing
    DOI:  https://doi.org/10.3390/biom14050568
  8. Nat Med. 2024 May;30(5): 1217
    Turning the tide of early cancer detection.
      
    DOI:  https://doi.org/10.1038/s41591-024-03046-y
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