bims-ovdlit 2024-01-14 papers

Issue of 2024–01–14
two papers selected by
Lara Paracchini, Humanitas Research

Nat Med. 2024 Jan 11.

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

The Cancer Programme of the 100,000 Genomes Project was an initiative to provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care within the UK National Healthcare System (NHS). Genomics England, alongside NHS England, analyzed WGS data from 13,880 solid tumors spanning 33 cancer types, integrating genomic data with real-world treatment and outcome data, within a secure Research Environment. Incidence of somatic mutations in genes recommended for standard-of-care testing varied across cancer types. For instance, in glioblastoma multiforme, small variants were present in 94% of cases and copy number aberrations in at least one gene in 58% of cases, while sarcoma demonstrated the highest occurrence of actionable structural variants (13%). Homologous recombination deficiency was identified in 40% of high-grade serous ovarian cancer cases with 30% linked to pathogenic germline variants, highlighting the value of combined somatic and germline analysis. The linkage of WGS and longitudinal life course clinical data allowed the assessment of treatment outcomes for patients stratified according to pangenomic markers. Our findings demonstrate the utility of linking genomic and real-world clinical data to enable survival analysis to identify cancer genes that affect prognosis and advance our understanding of how cancer genomics impacts patient outcomes.

DOI: https://doi.org/10.1038/s41591-023-02682-0

J Obstet Gynaecol India. 2023 Dec;73(6): 471-476

OOPHORECTOMY: When and Why? A Novel Risk Stratification Tool as an Aid to Decision Making at Gynecological Surgeries.

Suvarna Satish Khadilkar, Meena Samant.

The decision regarding oophorectomy during gynecological surgeries, especially in perimenopausal and postmenopausal women, has historically posed a significant dilemma. Traditionally, it was widely believed that conserving the ovaries held no benefits, leading to a common practice of recommending bilateral salpingo-oophorectomy alongside hysterectomy for benign conditions in women aged 40-45 and above. Given our evolving comprehension of postmenopausal ovarian function and the genetic susceptibility to ovarian epithelial cancers, the decision regarding oophorectomy poses a dilemma. Oophorectomy is recommended for women with a higher risk of ovarian cancer and ovarian conservation is necessary with women with higher risk of co-morbidities. This paper reviews the available literature on these aspects of oophorectomy. Despite a wealth of literature narrating the advantages and disadvantages of oophorectomy, covering various aspects such as ovarian cancer risk, myocardial infarction incidence, and post-oophorectomy peritoneal cancer, there is a notable absence of a comprehensive evaluation system for risk stratification. The objective of the present paper is to address this gap by consolidating existing literature into a risk stratification system. This system will provide treating physicians a tool that facilitates more informed, case-specific decisions in collaboration with patients and their families. While recognizing that the ultimate decision must be tailored to the individual case and agreed upon mutually by the surgeon, patient, and family, the proposed system seeks to streamline risk stratification. This, in turn, should aid in determining the most suitable course of treatment that maximizes benefits for the patient.

Keywords: Decision making tool; Menopausal hormone therapy; Oophorectomy; Ovarian conservation; Risk stratification; Scoring system

DOI: https://doi.org/10.1007/s13224-023-01924-y