journal contribution posted on 2023-09-15, 08:23 authored by Laura Costas, Irene Onieva, Beatriz Pelegrina, Fátima Marin, Álvaro Carmona, Marta López-Querol, Jon Frias-Gomez, Paula Peremiquel-Trillas, José Manuel Martínez, Eduard Dorca, Joan Brunet, Marta Pineda, Jordi Ponce, Xavier Matias-Guiu, Silvia de Sanjosé, Francesc Xavier Bosch, Laia Alemany, Sonia Paytubi
ROC curve showing the detection performance of the NGS test in supernatant urine samples
Instituto de Salud Carlos III (ISCIII)
Centro de Investigación Biomédica en Red de Cáncer (CIBERONC)
Fundación Científica Asociación Española Contra el Cáncer (AECC)
Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR)
ARTICLE ABSTRACTCurrent 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.
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.
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.
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 self-collected 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.