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New definitive test may act as "second opinion" for some women facing hysterectomies.

Researchers from Thomas Jefferson University have developed a new genetic test that uses reverse transcriptase-polymerase chain reaction (RT-PCR) to identify uterine tumors as malignant or benign. The test, which is more definitive than the routine tests currently in use, looks for the presence or absence of the gamma-smooth muscle isoactin gene. This gene, whose absence correlates positive with malignancy, represents a unique molecular marker of uterine cancer. These findings appear in the July issue of Cancer.

The study, led by Kirk McHugh, Ph.D., associate professor of pathology, anatomy and cell biology at Jefferson Medical College, and the person who first identified the gamma-smooth muscle isoactin gene, lends new hope to women with uterine fibroid tumors whose diagnosis is inconclusive. "Uterine fibroids account for one-third of gynecologic hospital admissions," explained Dr. McHugh. "Most are diagnosed as benign leiomyomas, but four to five percent are malignant leiomyosarcomas. Some other tumors fall into a so-called grey zone, with test results proving inconclusive."

According to Dr. McHugh, current tests cannot conclusively identify these grey zone tumors, or "tumors of uncertain malignant potential," as benign or malignant. "To err on the side of caution, many times women with tumors of this type undergo hysterectomies to protect against the chance that cancer is present. Our test provides a definitive answer that may spare these women unnecessary surgery and loss of their reproductive organs."

RT-PCR is a highly sensitive, diagnostic test that identifies a tumor as benign if the gamma-smooth isoactin gene is present, and malignant if the gene is not present. "There is no grey zone with this test," said Dr. McHugh. "It gives a clear yes or no answer, providing a definitive diagnosis of cancer, lending protection against potentially unnecessary surgery and follow-up radiation therapy as well as providing peace of mind for those women diagnosed with benign tumors."

The new genetic test is not part of the standard battery of pathologic tests recommended for uterine tumor tissue biopsies, but is currently under experimental use at Jefferson. The test acts as a definitive second opinion, especially important for women of child-bearing age who have been told that they may have cancer and should probably have a hysterectomy. "Undergoing a hysterectomy is an unsettling experience for women of any age, but can be especially devastating for a young woman who is hoping to bear children," explained Dr. McHugh. "For this small population of women, a definitive diagnosis of benign versus malignant is critical."