Article
Integrated mutational landscape analysis of endometrial stromal sarcoma.
Proceedings of the National Academy of Sciences of the United States of America - 3 Feb 2026
Hartwich Tobias M P, Choi Seungji, Hwang Ayoung, Bellone Stefania, Palmieri Luca, Seo Hae, Kim Taekeun, Hong Juhyeon, Krakstad Camilla, Trovik Jone, Stefansson Ingunn M, Haugland Hans Kristian, Greenman Michelle, Ettorre Victoria, Ottum Sarah, Demirkiran Cem, Yang-Hartwich Yang, Buza Natalia, Hui Pei, Lopez Salvatore, Cormio Gennaro, Ramunno Mariantonietta, Zito Alfredo, Perrone Emanuele, Fagotti Anna, Fanfani Francesco, Santoro Angela, Ravaggi Antonella, Bignotti Eliana, Odicino Franco, Ardighieri Laura, Ratner Elena, Angioli Roberto, Perrone Giuseppe, Luvero Daniela, Conca Beatrice, Choi Jungmin, Schlessinger Joseph, Santin Alessandro D
Abstract excerpt
Endometrial stromal sarcoma (ESS) is a rare uterine malignancy with limited treatment options. We performed integrated whole-genome, whole-exome, and transcriptome sequencing on 80 ESS tumors, comprising 32 low-grade (LG) and 48 high-grade (HG) tumors, to characterize their genetic landscape. The overall mutation burden was modest, with no significant difference between grades; however, we identified six...
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