Primary extraskeletal myxoid chondrosarcoma of ovary with novel KIT mutation: A case report and literature review

Background: Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant mesenchymal neoplasm of uncertain differentiation. Despite its name, this tumor type has no relationship to cartilage. Most tumors arise in deep soft tissue of the proximal extremities and limb girdles. The KIT mutation of this tumor is extremely rare and the ovary location as primary location has not been reported yet before. Case presentation: We present a case of primary EMC of ovary with novel KIT mutation of a 54-year-old female. To the best of our knowledge, we report the first primary EMC of ovary and the fourth case with KIT mutation. Conclusions With this case study we try to make a better understanding of tumor, lessen the diagnostic confusion by highlighting its rare location, and more importantly present substantial molecular data, which might help in providing more therapeutic opportunities in the future.