Protracted clinical course of an AFF1 fusion positive uterine smooth muscle tumor causing diagnostic confusion over a course of 15 years

Abstract

Highlights Histologic diagnostic criteria alone for uterine smooth muscle tumors lacks robust prognostication. Molecular/genetic techniques should be advocated to further investigate unusual case presentations. Novel identification of a PTP4A2-AFF1 genetic fusion was identified. The novel PTP4A2-AFF1 genetic fusion may have further diagnostic prognostic, and therapeutic implications.