Philadelphia-based Fox Chase Cancer Center has documented the first case of myxoid leiomyosarcoma in the rectum.
The rare cancer is typically seen in the female reproductive system and has similar features to other tumor types, such as myxoid liposarcoma, myxofibrosarcoma and extraskeletal myxoid chondrosarcoma. Although myxoid leiomyosarcoma is well documented, it is easy to misdiagnose, according to a May 29 system news release shared with Becker's.
It is most commonly found in the uterus and external female genitalia, but this is the first case of it being documented in the rectum. Fox Chase researchers also found a novel fusion gene that could be used to identify the cancer at the molecular level.
"It's difficult to diagnose myxoid leiomyosarcoma, in part because the morphology is not typical to traditional leiomyosarcoma," lead study author Shuanzeng Wei, MD, PhD, medical director of the clinical genomics laboratory at Fox Chase, said in the release. "If you encounter a similar myxoid tumor, you should be careful and not just make a diagnosis lightly. Send it for molecular testing — for example what we are doing with next-generation sequencing — and look for the specific fusion gene to confirm the diagnosis."
The study was published April 24 in Genes, Chromosomes & Cancer.