Noninvasive Cervical Test Detects Endometrial Cancer for Triage

Endometrial cancer is rising in incidence and mortality in the United States. The disease has no population screening program or FDA-cleared noninvasive test for early identification, and evaluation can involve invasive tissue sampling despite most women with postmenopausal bleeding not having cancer. A molecular assay now offers a noninvasive cervical-specimen approach to support triage for patients who may need biopsy.

Gnosis (Irvine, CA, USA), a CLIA- and CAP-accredited clinical laboratory, has reported peer-reviewed data on EdenDx, or Early Detection for Endometrial Neoplasia. The assay detects hypermethylation of CDO1 and CELF4, two genes associated with endometrial cancer, using cervical cytology specimens preserved in a standard ThinPrep vial and collected similarly to a liquid-based Pap test. Because the assay analyzes molecular changes, its results are not dependent on endometrial thickness, which can vary with hormonal changes.

The study, published in Gynecologic Oncology Reports, evaluated biomarkers that had previously been studied mainly in Asian populations in a cohort that included U.S. patients. In cervical cytology specimens, EdenDx demonstrated 96.8% specificity and detected 72.2% of cancers, including 82% of grade 1 tumors and 81% of endometrioid adenocarcinomas. In endometrial biopsy tissue from 40 U.S. patients, the assay detected 85% of cancers with 90% specificity, while a positive result was associated with more than a 22-fold increase in the odds of cancer.

Analytical testing showed that EdenDx could detect cancer DNA when cancer cells made up as little as 1.5% of a sample, with run-to-run variation below 10%. Results were not affected by common vaginal infections, blood, semen, or over-the-counter vaginal products, and no false positives were observed in specimens with HPV-related abnormal Pap findings, metastatic ovarian cancer, or benign ovarian cysts. The assay is intended for symptomatic women and those at elevated risk and is designed to support, rather than replace, endometrial sampling for definitive diagnosis.

“CDO1 and CELF4 methylation changes arise early in the development of endometrial cancer, in some cases before symptoms appear, and that is precisely what makes them so valuable diagnostically. EdenDx detects those changes directly in a routine cervical specimen, without relying on how cells look under a microscope. For a disease whose evaluation has long relied on tissue sampling alone, that represents a genuine advance,” said Dr. Safedin Beqaj, Laboratory Director at Gnosis.

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