According to Dr. Peter Dottino, director of Gynecologic Oncology at Mount Sinai Health System his interests are to investigate, "...the possibility of coupling newly developed genomic technologies with current treatment practices to develop a precision medicine assay for screening and early detection of this cancer."
His study, published in PLOS Medicine, collected blood samples and uterine lavage from 107 patients who had hysterectomy and curettage for diagnostic evaluation. The lavage samples—processed to generate cellular and cell-free (cf) DNA—underwent next-generation sequencing using 2 gene panels (56 genes and 12 genes). The hysteroscopy samples were simultaneously analyzed using standard histopathology techniques.
Seven patients were diagnosed with endometrial cancer based on histopathologic analysis, 6 of whom had stage IA cancer; 1 cancer was detectable only as a microscopic focus within a polyp. Genetic analysis found all 7 patients had significant cancer-associated mutations in the cell pellet as well as the cfDNA.
Patients whose tumor samples were not available in sufficient quantities had their lavage samples tested; all tumor mutations above a specific allele fraction were found in the lavage DNA samples, the authors write. Of the remaining 95 patients who had benign or non-cancer pathology, 51 had high allele fraction, cancer-associated mutations, which were not detected by histopathologic analysis. "Given that a uterine lavage can be easily and quickly performed even outside of the operating room and in a physician’s office-based setting, our findings suggest the future possibility of this approach for screening women for the earliest stages of endometrial cancer," the authors concluded.