bims-ovdlit Biomed News
on Ovarian cancer: early diagnosis, liquid biopsy and therapy
Issue of 2024‒10‒20
seven papers selected by
Lara Paracchini, Humanitas Research



  1. Int J Gynaecol Obstet. 2024 Oct 16.
    FIGO Committee on Women's Cancer
      Epithelial ovarian cancer, with the highest mortality rate among gynecologic malignancies, often goes undetected until advanced stages due to non-specific symptoms. Traditional prevention strategies such as bilateral salpingo-oophorectomy (BSO) are limited to high-risk women and induce surgical menopause, often leading to significant health concerns. Recent findings suggest that many serous epithelial ovarian cancers originate in the fallopian tubes rather than the ovaries. This has led to the hypothesis that salpingectomy, with preservation of the ovaries, may reduce the risk of ovarian cancer while avoiding the adverse effects of early menopause. Studies show that bilateral salpingectomy (BS) significantly reduces ovarian cancer incidence even in average-risk women. Bilateral salpingectomy has been demonstrated to be safe with minimal added operative time, no adverse effects on ovarian function and is also cost effective. Opportunistic salpingectomy (OS), at the time of non-gynecologic surgeries, is a promising strategy for reducing ovarian cancer risk, especially among average-risk women who have completed childbearing. It offers a safe and cost-effective alternative to traditional methods. Emerging data supports incorporating OS into standard surgical practices for benign gynecologic conditions and considering it during unrelated abdominal/pelvic surgeries after adequate patient counseling and informed consent. Further training of non-gynecologic surgeons in OS is recommended to expand its preventive benefits.
    Keywords:  cancer prevention; opportunistic; salpingectomy
    DOI:  https://doi.org/10.1002/ijgo.15884
  2. Prog Lipid Res. 2024 Oct 11. pii: S0163-7827(24)00035-3. [Epub ahead of print]96 101302
      High-grade serous ovarian cancer (HGSOC) represents the most lethal subtype of ovarian cancer, largely due to being commonly diagnosed at advanced stages. The early molecular mechanisms underlying ovarian carcinogenesis remain poorly defined, posing challenges to the development of prevention and early detection strategies. Here we dissect the molecular mechanisms of sex steroid hormone signaling throughout the decades-long evolution of HGSOC precursor lesions, which predominantly originate from secretory epithelial cells of fallopian tubes (FT). We also discuss the prognostic significance of sex steroid receptor isoforms and steroid metabolizing enzymes in HGSOCs. Finally, we provide a comprehensive gene expression atlases of sex steroid receptors, steroidogenic, and steroid-metabolizing enzymes across different cell populations in pre- and postmenopausal FTs, and HGSOCs, using published single-cell RNA sequencing datasets. These atlases reveal that secretory epithelial cells and stromal populations in FTs express sex steroid receptors and enzymes responsible for the formation and inactivation of genotoxic estrogen metabolites. In HGSOC, epithelial cells express various HSD17B isoforms and steroid conjugating enzymes, suggesting an enhanced ability to finely regulate the levels of bioactive sex steroids.
    Keywords:  Androgens; Estrogens; High-grade serous ovarian cancer; Progestogens; Serous tubal intraepithelial carcinoma; Sex steroid receptors
    DOI:  https://doi.org/10.1016/j.plipres.2024.101302
  3. Discov Oncol. 2024 Oct 15. 15(1): 561
      Li-Fraumeni syndrome is a rare yet serious hereditary cancer predisposition syndrome, marked by a significant early-life increased risk of developing cancer. Primarily caused by germline mutations in the TP53 tumor suppressor gene, Li-Fraumeni syndrome is associated with a wide range of malignancies. Clinical management of Li-Fraumeni syndrome could be challenging, especially the lifelong surveillance and follow-up of patients which requires a multidisciplinary approach. Emerging insights into the molecular and clinical basis of Li-Fraumeni syndrome, coupled with advances in genomic technologies and targeted therapies, offer promise in optimizing risk assessment, early detection, and treatment strategies tailored to the unique clinical and molecular profiles of affected individuals. This review discusses Li-Fraumeni syndrome in more depth, reviewing molecular, genomic, epidemiological, clinical, and therapeutic aspects of this disease.
    Keywords:  AYA; Adolescents and young adults cancer; Cancer predisposition syndromes; Hereditary cancer; Li-Fraumeni; TP53; p53
    DOI:  https://doi.org/10.1007/s12672-024-01435-w
  4. J Transl Med. 2024 Oct 15. 22(1): 938
      BACKGROUND: Recent studies have highlighted the importance of the cell-free DNA (cfDNA) methylation profile in detecting breast cancer (BC) and its different subtypes. We investigated whether plasma cfDNA methylation, using cell-free Methylated DNA Immunoprecipitation and High-Throughput Sequencing (cfMeDIP-seq), may be informative in characterizing breast cancer in patients with BRCA1/2 germline mutations for early cancer detection and response to therapy.METHODS: We enrolled 23 BC patients with germline mutation of BRCA1 and BRCA2 genes, 19 healthy controls without BRCA1/2 mutation, and two healthy individuals who carried BRCA1/2 mutations. Blood samples were collected for all study subjects at the diagnosis, and plasma was isolated by centrifugation. Cell-free DNA was extracted from 1 mL of plasma, and cfMeDIP-seq was performed for each sample. Shallow whole genome sequencing was performed on the immuno-precipitated samples. Then, the differentially methylated 300-bp regions (DMRs) between 25 BRCA germline mutation carriers and 19 non-carriers were identified. DMRs were compared with tumor-specific regions from public datasets to perform an unbiased analysis. Finally, two statistical classifiers were trained based on the GLMnet and random forest model to evaluate if the identified DMRs could discriminate BRCA-positive from healthy samples.
    RESULTS: We identified 7,095 hypermethylated and 212 hypomethylated regions in 25 BRCA germline mutation carriers compared to 19 controls. These regions discriminate tumors from healthy samples with high accuracy and sensitivity. We show that the circulating tumor DNA of BRCA1/2 mutant breast cancers is characterized by the hypomethylation of genes involved in DNA repair and cell cycle. We uncovered the TFs associated with these DRMs and identified that proteins of the Erythroblast Transformation Specific (ETS) family are particularly active in the hypermethylated regions. Finally, we assessed that these regions could discriminate between BRCA positives from healthy samples with an AUC of 0.95, a sensitivity of 88%, and a specificity of 94.74%.
    CONCLUSIONS: Our study emphasizes the importance of tumor cell-derived DNA methylation in BC, reporting a different methylation profile between patients carrying mutations in BRCA1, BRCA2, and wild-type controls. Our minimally invasive approach could allow early cancer diagnosis, assessment of minimal residual disease, and monitoring of response to therapy.
    Keywords:  BRCA1; BRCA2; Breast cancer; Cell-free DNA; DMRs; cfMeDIP-seq
    DOI:  https://doi.org/10.1186/s12967-024-05734-2
  5. Int J Mol Sci. 2024 Sep 27. pii: 10455. [Epub ahead of print]25(19):
      The determination of the cancer prognosis is paramount for patients and medical personnel so that they can devise treatment strategies. Transcriptional-based signatures and subtypes derived from cancer biopsy material have been used in clinical practice for several cancer types to aid in setting the patient prognosis and forming treatment strategies. Other genomic features in cancer biopsies, such as copy number alterations (CNAs), have been underused in clinical practice, and yet they represent a complementary source of molecular information that can add detail to the prognosis, which is supported by recent work in breast, ovarian, and lung cancers. Here, through a systematic strategy, we explored the prognostic power of CNAs in 37 cancer types. In this analysis, we defined two modes of informative features, deep and soft, depending on the number of alleles gained or lost. These informative modes were grouped by amplifications or deletions to form four single-data prognostic models. Finally, the single-data models were summed or combined to generate four additional multidata prognostic models. First, we show that the modes of features are cancer-type dependent, where deep alterations generate better models. Nevertheless, some cancers require soft alterations to generate a feasible model due to the lack of significant deep alterations. Then, we show that the models generated by summing coefficients from amplifications and deletions appear to be more practical for many but not all cancer types. We show that the CNA-derived risk group is independent of other clinical factors. Furthermore, overall, we show that CNA-derived models can define clinically relevant risk groups in 33 of the 37 (90%) cancer types analyzed. Our study highlights the use of CNAs as biomarkers that are potentially clinically relevant to survival in cancer patients.
    Keywords:  TCGA; biomarkers; cancer prognosis; survival models
    DOI:  https://doi.org/10.3390/ijms251910455
  6. Clin Cancer Res. 2024 Oct 17.
      PURPOSE: ctDNA is a novel technique extensively studied in solid tumors, although not currently well defined in endometrial cancer (EC).EXPERIMENTAL DESIGN: A de-identified retrospective analysis of 1988 patients with advanced/recurrent EC was performed. In addition, an analysis of a real-world evidence (RWE) cohort was completed (n=1266). Patients underwent ctDNA testing using Guardant360 during routine clinical care. The objective was to describe and assess molecular landscape using ctDNA.
    RESULTS: Among 1988 ctDNA samples, at least one somatic alteration was detected in 91.6% (n=1821). Most frequently altered genes were TP53 (64%), PIK3CA (29%), PTEN (25%), ARID1A (20%) and KRAS (14%). Overall, 18.5% had amplifications, with the majority identified in CCNE1 (40.9%), PIK3CA (22%) and EGFR (19.3%). From the RWE cohort, those with TP53 mutations had a worse overall survival (OS) vs those without TP53 mutations (p=0.02) and those with TP53 co-mutations had an inferior OS in comparison to TP53-mutated only (p=0.016). Amongst these, patients with a PIK3CA co-mutation (p=0.012) and CCNE1 amplification (p=0.01) had inferior OS compared to those with only TP53 mutations. 57 patients with newly diagnosed EC had at least 2 serial ctDNA samples showing evolution in detected variants compared to baseline samples, with TP53 being the most frequent change.
    CONCLUSIONS: This study is one of the largest cohorts of ctDNA currently reported in EC. The presence of TP53 mutation and other co-mutations detected by ctDNA have a negative effect on outcomes. This report suggests that ctDNA analysis is feasible and could become a useful biomarker for EC.
    DOI:  https://doi.org/10.1158/1078-0432.CCR-24-2105
  7. Int J Cancer. 2024 Oct 16.
      To date, there are no biomarkers that define a patient subpopulation responsive to bevacizumab (BEV), an effective treatment option for advanced ovarian carcinoma (OC). In the context of the MITO16A/MaNGO OV-2 trial, a Phase IV study of chemotherapy combined with BEV in first-line treatment of advanced OC, we evaluated TP53 mutations by next-generation sequencing and p53 expression by immunohistochemistry (IHC) on 202 and 311 cases, respectively. We further correlated TP53 mutations in terms of type, function, and site, and IHC data with patients' clinicopathological characteristics and survival. TP53 missense mutations of unknown function (named unclassified) represented the majority of variants in our population (44.4%) and were associated with a significantly improved overall survival (OS) both in univariable (hazard ratio [HR] = 0.43, 95% confidence interval [CI] = 0.20-0.92, p = .03) and multivariable analysis (HR = 0.39, 95% CI = 0.18-0.86, p = .02). Concordance between TP53 mutational analysis and IHC was 91%. We observed an HR of 0.70 for OS in patients with p53 IHC overexpression compared to p53 wild-type, which however did not reach statistical significance (p = .31, 95% CI = 0.36-1.38). Our results indicate that the presence of unclassified TP53 mutations has favorable prognostic significance in patients with OC receiving upfront BEV plus chemotherapy. In particular, unclassified missense TP53 mutations characterize a subpopulation of patients with a significant survival advantage, independently of clinicopathological characteristics. Our findings warrant future investigations to confirm the prognostic impact of TP53 mutations in BEV-treated OC patients and deserve to be assessed for their potential predictive role in future randomized clinical studies.
    Keywords:  TP53 mutations; bevacizumab treatment; ovarian cancer; precision medicine
    DOI:  https://doi.org/10.1002/ijc.35203