First Case Report of a Uterine Angiolipoleiomyoma With KRAS and KIT Mutations

Abstract

Angiolipoleiomyoma is a very rare lesion of the uterus. To the best of our knowledge, only 20 cases have been described in the literature. It is an insufficiently defined entity, which is not included in the WHO classification. This lesion may be therefore underdiagnosed and underestimated. We describe here a case of a 58-yr-old woman who underwent routine gynecological examination. Ultrasonography revealed a heterogeneous myometrial mass, while magnetic resonance imaging showed a voluminous corporeal and fundic myometrial mass protruding into the uterine cavity. A total hysterectomy was performed. The macroscopic examination revealed an intramural solitary round mass with a heterogeneous cut-surface. Microscopically, the lesion consisted of an admixture of smooth muscle, adipose tissue, and blood vessels. Desmin was positive, while HMB45 was negative in the tumor. Molecular tests were performed and revealed, for the first time to our knowledge, a case of an angiolipoleiomyoma harboring KRAS and KIT mutations.