bims-ovdlit 2024-12-29 papers

Issue of 2024–12–29
four papers selected by
Lara Paracchini, Humanitas Research

Curr Oncol. 2024 Dec 18. 31(12): 8023-8038

Challenges in Implementing Comprehensive Precision Medicine Screening for Ovarian Cancer.

Laura R Moffitt, Nazanin Karimnia, Amy L Wilson, Andrew N Stephens, Gwo-Yaw Ho, Maree Bilandzic.

Precision medicine has revolutionised targeted cancer treatments; however, its implementation in ovarian cancer remains challenging. Diverse tumour biology and extensive heterogeneity in ovarian cancer can limit the translatability of genetic profiling and contribute to a lack of biomarkers of treatment response. This review addresses the barriers in precision medicine for ovarian cancer, including obtaining adequate and representative tissue samples for analysis, developing functional and standardised screening methods, and navigating data infrastructure and management. Ethical concerns related to patient consent, data privacy and health equity are also explored. We highlight the socio-economic complexities for precision medicine and propose strategies to overcome these challenges with an emphasis on accessibility and education amongst patients and health professionals and the development of regulatory frameworks to support clinical integration. Interdisciplinary collaboration is essential to drive progress in precision medicine to improve disease management and ovarian cancer patient outcomes.

Keywords: epithelial ovarian cancer; genomic screening; high-throughput drug screening; precision medicine; tumour heterogeneity

DOI: https://doi.org/10.3390/curroncol31120592

BMJ Sex Reprod Health. 2024 Dec 22. pii: bmjsrh-2024-202536. [Epub ahead of print]

Eliminating cervical cancer: tackling inequity through human papillomavirus (HPV) test self-sampling.

Telma Costa, Deborah Bateson, Nathalie Broutet, Marion Saville, Karen Canfell.

Keywords: Early detection of cancer; Papillomaviridae; health education

DOI: https://doi.org/10.1136/bmjsrh-2024-202536

bioRxiv. 2024 Dec 13. pii: 2024.12.13.627515. [Epub ahead of print]

Characterization of DNA methylation in PBMCs and donor-matched iPSCs shows methylation is reset during stem cell reprogramming.

Xylena Reed, Cory A Weller, Sara Saez-Atienzar, Alexandra Beilina, Sultana Solaiman, Makayla Portley, Mary Kaileh, Roshni Roy, Jinhui Ding, A Zenobia Moore, D Thad Whitaker, Bryan J Traynor, J Raphael Gibbs, Sonja W Scholz, Mark R Cookson.

DNA methylation is an important epigenetic mechanism that helps define and maintain cellular functions. It is influenced by many factors, including environmental exposures, genotype, cell type, sex, and aging. Since age is the primary risk factor for developing neurodegenerative diseases, it is important to determine if aging-related DNA methylation is retained when cells are reprogrammed to an induced Pluripotent Stem Cell (iPSC) state. Here, we selected peripheral blood mononuclear cells (PBMCs; n = 99) from a cohort of diverse and healthy individuals enrolled in the Genetic and Epigenetic Signatures of Translational Aging Laboratory Testing (GESTALT) study to convert to iPSCs. After reprogramming we evaluated the resulting iPSCs for DNA methylation signatures to determine if they reflect the confounding factors of age and environmental factors. We used genome-wide DNA methylation arrays in both cell types to show that the epigenetic clock is largely reset to an early methylation age after conversion of PBMCs to iPSCs. We further examined the epigenetic age of each cell type using an Epigenome-wide Association Study (EWAS). Finally, we identified a set of methylation Quantitative Trait Loci (methQTL) in each cell type. Our results show that age-related DNA methylation is largely reset in iPSCs, and each cell type has a unique set of methylation sites that are genetically influenced.
Highlights: Generation of a population-level set of iPSC lines from healthy individuals across the lifespanAging-related features were reset based on epigenetic markers of cytosine methylation and telomere lengthBy comparing methQTLs in iPSC vs. their donor PBMCs, we find that detection of methQTLs reflect biological functions of different cell types.

DOI: https://doi.org/10.1101/2024.12.13.627515

Gynecol Oncol Rep. 2024 Dec;56 101550

Utilization of immunohistochemistry in gynecologic tumors: An expert review.

Arielle H Katcher, Michelle P Greenman, Sudarshana Roychoudhury, Gary L Goldberg.

The use of immunohistochemistry (IHC) and molecular pathology has been widely adopted over the past 3 decades and has aided in the precision of diagnosing gynecologic tumors. While many tumors can be diagnosed by histologic appearance on routine hematoxylin and eosin stained slides, the use of IHC has dramatically changed practice, leading to a better understanding and subtyping of gynecologic tumors. This detailed classification of tumors has aided in the implementation and development of targeted therapies. Available IHC stains and their applications continue to rapidly evolve. Our review aims to provide updated information on the use of IHC in gynecologic tumors. We will also address the rationale for preferred therapeutic regimens that are personalized based on IHC.

Keywords: Cervical cancer; Endometrial cancer; Gynecologic cancer; Immunohistochemistry; Ovarian cancer; Pathology

DOI: https://doi.org/10.1016/j.gore.2024.101550