Whole exome sequencing reveals diverse genomic relatedness between paired concurrent endometrial and ovarian carcinomas

Emily Southworth, Southworth E, John P Thomson, Thomson JP, Ian Croy, Croy I, Churchman M, Michael Churchman, Arends MJ, Mark J. Arends, Robert L. Hollis, Charlie Gourley, Gourley C, C. Simon Herrington
European journal of cancer (Oxford, England : 1990) · 2024 · vol. 208 , pp. 114205 · doi:10.1016/j.ejca.2024.114205 · PMID:38986422
other OA: hybrid CC-BY-4.0
🔓 Open OA copy View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-11 ⓘ

Whole exome sequencing demonstrated genomic relatedness between paired non-serous endometrial and ovarian carcinomas in all 27 patients studied, supporting a common origin hypothesis.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

INTRODUCTION: Concurrent non-serous endometrial and ovarian tumours are often managed clinically as two separate primary tumours, but almost all exhibit evidence of a genomic relationship. METHODOLOGY: This study investigates the extent of relatedness using whole exome sequencing, which was performed on paired non-serous endometrial and ovarian carcinomas from 27 patients with concurrent tumours in a cohort with detailed clinicopathological annotation. Four whole exome sequencing-derived parameters (mutation, mutational burden, mutational signatures and mutant allele tumour heterogeneity scores) were used to develop a novel unsupervised model for the assessment of genomic similarity to infer genomic relatedness of paired tumours. RESULTS: This novel model demonstrated genomic relatedness across all four parameters in all tumour pairs. Mutations in PTEN, ARID1A, CTNNB1, KMT2D and PIK3CA occurred most frequently and 24 of 27 (89 %) tumour pairs shared identical mutations in at least one of these genes, with all pairs sharing mutations in a number of other genes. Ovarian endometriosis, CTNNB1 exon 3 mutation, and progression and death from disease were present across the similarity ranking. Mismatch repair deficiency was associated with less genomically similar pairs. DISCUSSION: Although there was diversity across the cohort, the presence of genomic similarity in all paired tumours supports the hypothesis that concurrent non-serous endometrial and ovarian carcinomas are genomically related and may have arisen from a common origin.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms Endometrial Neoplasms

Funding

funders
[{'doi': '10.13039/501100000672', 'name': 'Pathological Society of Great Britain and Ireland', 'awards': []}, {'doi': '10.13039/501100000289', 'name': 'Cancer Research UK', 'awards': []}, {'doi': '10.13039/501100008171', 'name': 'Target Ovarian Cancer', 'awards': []}, {'doi': '10.13039/100015654', 'name': 'Nicola Murray Foundation', 'awards': []}]

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (45)

Source provenance

crossref
last seen: 2026-07-02T06:26:54.156689+00:00
europepmc
last seen: 2026-08-06T06:07:45.168820+00:00
pubmed
last seen: 2026-08-06T06:05:50.788184+00:00
unpaywall
last seen: 2026-05-14T19:30:52.867331+00:00
License: CC-BY-4.0 · commercial use OK · attribution required
Courtesy of the U.S. National Library of Medicine