Integrated mutational landscape analysis of endometrial stromal sarcoma
Hartwich T, Choi S, Hwang A, Bellone S, Palmieri L, Seo H, Kim T, Hong J, Krakstad C, Trovik J, Stefansson I, Haugland H, Greenman M, Ettorre V, Ottum S, Demirkiran C, Yang-Hartwich Y, Buza N, Hui P, Lopez S, Cormio G, Ramunno M, Zito A, Perrone E, Fagotti A, Fanfani F, Santoro A, Ravaggi A, Bignotti E, Odicino F, Ardighieri L, Ratner E, Angioli R, Perrone G, Luvero D, Conca B, Choi J, Schlessinger J, Santin A. Integrated mutational landscape analysis of endometrial stromal sarcoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2026, 123: e2531105123. PMID: 41591910, PMCID: PMC12867622, DOI: 10.1073/pnas.2531105123.Peer-Reviewed Original Research
ConceptsEndometrial stromal sarcomaHG-ESSStromal sarcomaLG-ESSFrequent lossMolecular basisHigh-gradeLow-gradePrediction of immunotherapy responseLoss of cell cycle regulationCell cycle regulationComplex DNA rearrangementsRare uterine malignancyCombination of MEKMutational landscape analysisDriver of malignancyTargeted treatment strategiesWhole genomeDNA rearrangementsFAK inhibitionTranscriptome sequencingWhole exomeGenetic landscapeChromosomal gainsRegulated genes