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

Christa Aubrey; Hanan Mal; Martin Köbel; Cheng-Han Lee; Gulisa Turashvili; Stephen Yip; Amy Lum; Gregg Nelson

doi:10.1016/j.gore.2021.100890

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

Gynecol Oncol Rep. 2021 Nov 17:38:100890. doi: 10.1016/j.gore.2021.100890. eCollection 2021 Nov.

Authors

Christa Aubrey¹, Hanan Mal², Martin Köbel³, Cheng-Han Lee⁴, Gulisa Turashvili⁵, Stephen Yip^{6

7}, Amy Lum⁷, Gregg Nelson⁸

Affiliations

¹ Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Cross Cancer Institute, University of Alberta, Canada.
² Gynecologic Oncology Fellow, Tom Baker Cancer Centre, Department of Oncology, University of Calgary, Canada.
³ Department of Pathology and Laboratory Medicine, University of Calgary, Canada.
⁴ Department of Laboratory Medicine and Pathology, University of Alberta, Canada.
⁵ Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, University of Toronto, Canada.
⁶ Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Canada.
⁷ Division of Anatomic Pathology, Department of Pathology and Laboratory Medicine, University of British Columbia, Canada.
⁸ Department of Oncology, Division of Gynecologic Oncology, Tom Baker Cancer Center University of Calgary, Canada.

Abstract

•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.

Publication types

Case Reports