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1005 Evaluation of somatic mutations in urine samples as a noninvasive method for the detection and molecular classification of endometrial cancer
  1. Laura Costas1,2,3,
  2. Irene Onieva3,4,
  3. Beatriz Pelegrina3,
  4. Fátima Marín3,5,
  5. Álvaro Carmona3,
  6. Marta López-Querol3,
  7. Jon Frias-Gomez3,4,
  8. Paula Peremiquel-Trillas1,
  9. Jose Manuel Martinez6,
  10. Edu Dorca7,
  11. August Vidal7,
  12. Lara Pijuan7,
  13. Joan Brunet8,
  14. Marta Pineda8,
  15. Jordi Ponce Sebastia4,6,
  16. Xavier Matias-Guiu7,
  17. Silvia De Sanjosé9,
  18. Xavier Bosch1,
  19. Laia Alemany1,2 and
  20. Sonia Paytubi1,2,3
  1. 1Cancer Epidemiology Research Programme, Barcelona, Spain
  2. 2CIBERESP, Madrid, Spain
  3. 3IDIBELL, Barcelona, Spain
  4. 4Barcelona University, Barcelona, Spain
  5. 5CIBERONC, Madrid, Spain
  6. 6Gyneacologic Department, Bellvitge University Hospital, Barcelona, Spain
  7. 7Pathology, Bellvitge University Hospital, Barcelona, Spain
  8. 8Hereditary Cancer, Catalan Institute of Oncology, Barcelona, Spain
  9. 9ISGlobal, Barcelona, Spain


Introduction/Background Current diagnostic methods for endometrial cancer lack specificity, leading to many women undergoing invasive procedures. The aim of this study was to evaluate somatic mutations in urine to accurately discriminate patients with endometrial cancer from controls.

Methodology Overall, 72 samples were analyzed using next-generation sequencing (NGS) with molecular identifiers targeting 47 genes. We evaluated urine supernatant samples from women with endometrial cancer (n = 19) and age-matched controls (n = 20). Cell pellets from urine and plasma samples from seven cases were sequenced; further, we also evaluated paired tumor samples from all cases. Finally, immunohistochemical markers for molecular profiling were evaluated in all tumor samples.

Results Overall, we were able to identify mutations in DNA from urine supernatant samples in 100% of endometrial cancers. In contrast, only one control (5%) showed variants at a variant allele frequency (VAF) ≥ 2% in the urine supernatant samples. The molecular classification obtained by using tumor samples and urine samples showed good agreement. Analyses in paired samples revealed a higher number of mutations and VAF in urine supernatants than in urine cell pellets and blood samples.

Conclusion Evaluation of somatic mutations using urine samples may offer a user-friendly and reliable tool for endometrial cancer detection and molecular classification. The diagnostic performance for endometrial cancer detection was very high, and cases could be molecularly classified using these noninvasive and selfcollected samples. Additional multicenter evaluations using larger sample sizes are needed to validate the results and understand the potential of urine samples for the early detection and prognosis of endometrial cancer.

Disclosures We thank the CERCA Programme/Generalitat de Catalunya for institutional support. This study was funded by a competitive grant from Novosanis/European Association for Cancer Research (EARC) 2021, Instituto de Salud Carlos III through the projects PIE16/00049, PI19/01835, PI23/00790, CM19/00216 and FI20/00031, CIBERESP CB06/02/0073, ESP23PI05, and CIBERONC CB16/12/ 00231, CB16/12/00234 (cofunded by European Regional Development Fund. ERDF: a way to build Europe). Samples and data were provided by Biobank HUB-ICO-IDIBELL, integrated into the Spanish Biobank Network, and funded by Instituto de Salud Carlos III (PT20/00171) and by Xarxa de Bancs de Tumors de Catalunya (XBTC) sponsored by Pla Director d’Oncologia de Catalunya. It also counts with the support of the Secretariat for Universities and Research of the Department of Business and Knowledge of the Generalitat de Catalunya and grants to support the activities of research groups 2021SGR01354 and 2021SGR1112.

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