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1200 The significance of CTNNB1 mutation in endometrial cancer
  1. Charlotte Tuerlinckx1,
  2. Isabelle Vanden Bempt2,3,
  3. Anne-Sophie Van Rompuy4,
  4. Thaïs Baert5,6,
  5. Fréderic Amant5,6,
  6. Siel Olbrecht5,
  7. Toon Van De Putte5,6,
  8. Els Van Nieuwenhuysen6,5 and
  9. Toon Van Gorp5,6
  1. 1Faculty of Medicine, KU Leuven, Leuven, Belgium
  2. 2Centre of Human Genetics, University Hospital Leuven, Leuven, Belgium
  3. 3Department of Human Genetics, KU Leuven, Leuven, Belgium
  4. 4Department of Pathology, University Hospital Leuven, Leuven, Belgium
  5. 5Division of Gynaecological Oncology, Department of Gynecology and Obstetrics, University Hospital Leuven, Leuven, Belgium
  6. 6Laboratory of Gynaecological Oncology, Leuven Cancer Institute, KU Leuven, Leuven, Belgium


Introduction/Background Previous studies have shown that CTNNB1 mutations increase the risk of recurrence in endometrial cancer (EC), particularly in the non-specific molecular profile (NSMP) subset.1 CTNNB1 is a β-catenin-encoding gene, and mutations are present in approximately 20–25% of EC. This study investigates clinicopathological differences between CTNNB1 mutated (CTNNB1mut) tumours and CTNNB1 wild type (CTNNB1wt) tumours, including progression free survival (PFS) and overall survival (OS)

Methodology This retrospective analysis includes consecutive patients diagnosed with EC between February 2019 and December 2022 in the University Hospital Leuven. Next-generation sequencing was performed as part of the routine histopathological examination in all patients. Statistical analyses used the Mann-Whitney U test and Fisher exact test for group comparisons, and the Kaplan-Meier method with Cox proportional hazard regression for estimating survival.

Results Among the cohort of 243 EC patients, 41 (16.9%) had a hotspot CTNNB1 mutation. CTNNB1mut EC was predominantly endometrioid (p<0.001), low-grade (p=0.015), and could be classified as NSMP (p<0.001). There was no difference in PFS [HR 0.73 (95%CI:0.25–2.12)] and OS [HR 0.41 (95%CI:0.05–3.29)] between CTNNB1mut and CTNNB1wt EC. Subsequent analysis within the endometrioid/NSMP molecular subgroup yielded similar outcomes for PFS [HR 1.17 (95%CI:0.32–4.36)] and OS [HR 0.50 (95%CI:0.06–4.10)] for CTNNB1mut vs. CTNNB1wt EC (figure 1).

Conclusion CTNNB1mut tumours exhibit distinctive clinicopathological features. In contrast to previous publications, we were not able to show a survival difference between CTNNB1mut and CTNNB1wt EC, neither in the whole EC population, nor in the NSMP subgroup.


  1. Travaglino, et al. Arch Gynecol Obstet 2022;306:423.


  • Charlotte Tuerlinckx: No disclosures

  • Isabelle Vanden Bempt: No disclosures

  • Anne-Sophie Van Rompuy: No disclosures

  • Thaïs Baert: Grants/research funding: Roche. Honoraria/consultation fees: AstraZeneca, GSK, Lilly, Novartis. Other support: AstraZeneca, GSK, MSD (travel, accommodation, expenses).

  • Fréderic Amant: No disclosures

  • Siel Olbrecht: No disclosures

  • Toon Van De Putte: No disclosures

  • Els Van Nieuwenhuysen: Grants/research funding: Eli-Lilly. Honoraria/consultation fees: AstraZeneca, OncoInvent, Regeneron.

  • Toon Van Gorp: Grants/research funding: AstraZeneca, Roche, Amgen; Honoraria/consultation fees: AstraZeneca, Eisai, GSK, MSD, ImmunoGen, Incyte, OncXerna Therapeutics, Seagen Tubulis, Zentalis; Speaker’s bureau: AstraZeneca, GSK, ImmunoGen; Other support: AstraZeneca, GSK, ImmunoGen, MSD, PharmaMar, Roche (travel, accommodation, expenses).

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