A recurrent endometrial stromal sarcoma harbors the novel fusionJAZF1-BCORL1.
•Genomic alterations may improve diagnostic certainty and subsequent treatment of endometrial stromal sarcoma.•Novel JAZF1-BCORL1 mutation was identified.•Targeted therapeutics to down-stream targets may improve survival benefit in these patients.
Department of Obstetrics and Gynecology and the Knight Cancer Institute, Oregon Health & Science University, Portland, OR, United States.
Allison J
AJ
Allen
Foundation Medicine, Inc., Cambridge, MA, United States.
Siraj M
SM
Ali
Foundation Medicine, Inc., Cambridge, MA, United States.
Kyle
K
Gowen
Foundation Medicine, Inc., Cambridge, MA, United States.
Julia A
JA
Elvin
Department of Obstetrics and Gynecology and the Knight Cancer Institute, Oregon Health & Science University, Portland, OR, United States.
Tanja
T
Pejovic
Chromatin; Endometrial stromal sarcoma; JAZF1; Polycomb