High performance of the DNA methylation‐based WID‐qEC test for detecting uterine cancers independent of sampling modalities

• Published in: International journal of cancer 2024-09, Vol.155 (5), p.800-806
• Main Authors: Illah, Ojone, Scott, Malcolm, Redl, Elisa, Barrett, James E., Schreiberhuber, Lena, Herzog, Chiara, Vavourakis, Charlotte D., Jones, Allison, Evans, Iona, Reisel, Dan, Chandrasekaran, Dhivya, Doufekas, Kostas, Graham, Radha, Kotsopoulos, Ioannis C., MacDonald, Nicola, Arora, Rupali, Olaitan, Adeola, Rosenthal, Adam, Widschwendter, Martin
• Format: Article
• Language: English
• Subjects: Adult; Aged; Biomarkers, Tumor - genetics; Cervix; collection modalities; DNA Methylation; early detection; Early Detection of Cancer - methods; Endometrial cancer; Endometrial Neoplasms - diagnosis; Endometrial Neoplasms - genetics; Endometrium; Female; Gynecological cancer; Humans; Middle Aged; Sampling; Sensitivity analysis; Sensitivity and Specificity; Specimen Handling - methods; Uterine cancer; Uterine Neoplasms - diagnosis; Uterine Neoplasms - genetics; Uterus
• ISSN: 0020-7136; 1097-0215; 1097-0215
• DOI: 10.1002/ijc.35000

Endometrial cancer (EC) is the most prevalent gynaecological cancer in high‐income countries and its incidence is continuing to rise sharply. Simple and objective tools to reliably detect women with EC are urgently needed. We recently developed and validated the DNA methylation (DNAme)‐based women's cancer risk identification—quantitative polymerase chain reaction test for endometrial cancer (WID‐qEC) test that could address this need. Here, we demonstrate that the stability of the WID‐qEC test remains consistent regardless of: (i) the cervicovaginal collection device and sample media used (Cervex brush and PreservCyt or FLOQSwab and eNAT), (ii) the collector of the specimen (gynaecologist‐ or patient‐based), and (iii) the precise sampling site (cervical, cervicovaginal and vaginal). Furthermore, we demonstrate sample stability in eNAT medium for 7 days at room temperature, greatly facilitating the implementation of the test into diagnostic laboratory workflows. When applying FLOQSwabs (Copan) in combination with the eNAT (Copan) sample collection media, the sensitivity and specificity of the WID‐qEC test to detect uterine (i.e., endometrial and cervical) cancers in gynaecologist‐taken samples was 92.9% (95% confidence interval [CI] = 75.0%–98.8%) and 98.6% (95% CI = 91.7%–99.9%), respectively, whilst the sensitivity and specificity in patient collected self‐samples was 75.0% (95% CI = 47.4%–91.7%) and 100.0% (95% CI = 93.9%–100.0%), respectively. Taken together these data confirm the robustness and clinical potential of the WID‐qEC test. What's new? Subjective diagnostic tests with modest accuracy, such as cytology or ultrasound, are currently used to assess the likelihood of uterine cancer in women with abnormal bleeding. Here, the authors show that the DNA methylation‐based women's cancer risk identification—quantitative polymerase chain reaction test for endometrial cancer (WID‐qEC) test they have previously developed has high sensitivity and specificity in detecting uterine cancers in symptomatic women irrespective of the sample collection device and medium, sample collector and precise sampling site. Furthermore, they demonstrate the compatibility of the WID‐qEC test used with the Copan sampling system with established diagnostic laboratory workflows, confirming the robustness and clinical potential of the WID‐qEC test.