Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman.
Alessandra J AinsworthNooshin K DashtiTaofic MounajjedKaren J FritchieJaime DavilaRohini MopuriRory A JacksonKevin C HallingJamie N Bakkum-GamezJ Kenneth SchoolmeesterPublished in: Diagnostic pathology (2019)
Prior studies of uterine leiomyomas have identified KAT6B (previously MORF) rearrangements in uterine leiomyomas, but this case is the first to identify a KAT6B-KANSL1 gene fusion in a uterine leiomyoma. While alterations of MED12 and HMGA2 are most common in uterine leiomyomas, a range of other genetic pathways have been described. Our case contributes to the evolving molecular landscape of uterine leiomyomas.