Diagnostic Dilemma: A 60 year old woman with cancer involving the uterus and left ovary: is this uterine cancer, ovarian cancer, or two independent cancers? (EN01-01)

Patient History:

The 60 year old woman was discovered to have a large, palpable left ovarian tumor. She had a total hysterectomy. Surgical pathology discovered clear-cell carcinoma of the left ovary and uterine cancer (endometrioid type). At surgery the left ovarian cancer was considered the more significant of the two cancers.

Original Diagnosis:

There appears to be two synchronous primary tumors. The first one is a uterine grade 3 endometrioid carcinoma, which is histologically dissimilar from the second one, which is a clear-cell carcinoma of the left ovary. The stains and hormone receptor assays performed on both tumors were not helpful in determining if the ovarian tumor is derived from the uterine tumor.

RedPath Diagnosis:

The presence of concodant allelic imbalance mutational profiles plus identical k-ras-2 point mutations established the link between both tumors. The percentage of mutated cells is higher in the ovary than in the endometrium which indicates the tumor in the ovary is a metastasis of the endometrial tumor.

Generic sample of PathFinderTG® quantitative test results. NOTE: A diagnostic interpretation of the quantitative test results is provided by the RedPath Pathologist.
Click here for test result explanation

Clinical Impact:

PathFinderTG revealed the mutational fingerprint of each tumor that clearly establishes the genetic relationship between the primary tumor in the uterus and the metastatic tumor in the ovary. If the doctor relied on the original diagnosis, the patient would have been treated for ovarian cancer. With the PathFinderTG results, the patient will now receive appropriate tumor staging and therapies for metastatic endometrial cancer.