{"entity": "publication", "iuid": "27036b54eac84ccd8bf21fc7cde5af87", "timestamp": "2026-07-18T18:40:29.899Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/27036b54eac84ccd8bf21fc7cde5af87.json"}, "display": {"href": "https://publications.scilifelab.se/publication/27036b54eac84ccd8bf21fc7cde5af87"}}, "title": "Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.", "authors": [{"family": "Mansouri", "given": "Larry", "initials": "L"}, {"family": "Noerenberg", "given": "Daniel", "initials": "D"}, {"family": "Young", "given": "Emma", "initials": "E"}, {"family": "Mylonas", "given": "Elena", "initials": "E"}, {"family": "Abdulla", "given": "Maysaa", "initials": "M"}, {"family": "Frick", "given": "Mareike", "initials": "M"}, {"family": "Asmar", "given": "Fazila", "initials": "F"}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Schneider", "given": "Markus", "initials": "M"}, {"family": "Yoshida", "given": "Kenichi", "initials": "K"}, {"family": "Skaftason", "given": "Aron", "initials": "A"}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Gonzalez", "given": "Blanca", "initials": "B"}, {"family": "Tasidou", "given": "Anna", "initials": "A"}, {"family": "Waldhueter", "given": "Nils", "initials": "N"}, {"family": "Rivas-Delgado", "given": "Alfredo", "initials": "A"}, {"family": "Angelopoulou", "given": "Maria", "initials": "M"}, {"family": "Ziepert", "given": "Marita", "initials": "M"}, {"family": "Arends", "given": "Christopher Maximilian", "initials": "CM"}, {"family": "Couronn\u00e9", "given": "Lucile", "initials": "L"}, {"family": "Lenze", "given": "Dido", "initials": "D"}, {"family": "Baldus", "given": "Claudia D", "initials": "CD"}, {"family": "Bastard", "given": "Christian", "initials": "C"}, {"family": "Okosun", "given": "Jessica", "initials": "J"}, {"family": "Fitzgibbon", "given": "Jude", "initials": "J"}, {"family": "D\u00f6rken", "given": "Bernd", "initials": "B"}, {"family": "Drexler", "given": "Hans G", "initials": "HG"}, {"family": "Roos-Weil", "given": "Damien", "initials": "D"}, {"family": "Schmitt", "given": "Clemens A", "initials": "CA"}, {"family": "Munch-Petersen", "given": "Helga D", "initials": "HD"}, {"family": "Zenz", "given": "Thorsten", "initials": "T"}, {"family": "Hansmann", "given": "Martin-Leo", "initials": "ML"}, {"family": "Strefford", "given": "Jonathan C", "initials": "JC"}, {"family": "Enblad", "given": "Gunilla", "initials": "G"}, {"family": "Bernard", "given": "Olivier A", "initials": "OA"}, {"family": "Ralfkiaer", "given": "Elisabeth", "initials": "E"}, {"family": "Erlanson", "given": "Martin", "initials": "M"}, {"family": "Korkolopoulou", "given": "Penelope", "initials": "P"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Papadaki", "given": "Theodora", "initials": "T"}, {"family": "Gr\u00f8nb\u00e6k", "given": "Kirsten", "initials": "K"}, {"family": "Lopez-Guillermo", "given": "Armando", "initials": "A"}, {"family": "Ogawa", "given": "Seishi", "initials": "S"}, {"family": "K\u00fcppers", "given": "Ralf", "initials": "R"}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K"}, {"family": "Stavroyianni", "given": "Niki", "initials": "N"}, {"family": "Kanellis", "given": "George", "initials": "G"}, {"family": "Rosenwald", "given": "Andreas", "initials": "A"}, {"family": "Campo", "given": "Elias", "initials": "E"}, {"family": "Amini", "given": "Rose-Marie", "initials": "RM"}, {"family": "Ott", "given": "German", "initials": "G"}, {"family": "Vassilakopoulos", "given": "Theodoros P", "initials": "TP"}, {"family": "Hummel", "given": "Michael", "initials": "M"}, {"family": "Rosenquist", "given": "Richard", "initials": "R"}, {"family": "Damm", "given": "Frederik", "initials": "F"}], "type": "clinical trial", "published": "2016-12-08", "journal": {"volume": "128", "issn": "1528-0020", "issue": "23", "pages": "2666-2670", "title": "Blood", "issn-l": "0006-4971"}, "abstract": "We recently reported a truncating deletion in the NFKBIE gene, which encodes I\u03baB\u03b5, a negative feedback regulator of NF-\u03baB, in clinically aggressive chronic lymphocytic leukemia (CLL). Because preliminary data indicate enrichment of NFKBIE aberrations in other lymphoid malignancies, we screened a large patient cohort (n = 1460) diagnosed with different lymphoid neoplasms. While NFKBIE deletions were infrequent in follicular lymphoma, splenic marginal zone lymphoma, and T-cell acute lymphoblastic leukemia (<2%), slightly higher frequencies were seen in diffuse large B-cell lymphoma, mantle cell lymphoma, and primary central nervous system lymphoma (3% to 4%). In contrast, a remarkably high frequency of NFKBIE aberrations (46/203 cases [22.7%]) was observed in primary mediastinal B-cell lymphoma (PMBL) and Hodgkin lymphoma (3/11 cases [27.3%]). NFKBIE-deleted PMBL patients were more often therapy refractory (P = .022) and displayed inferior outcome compared with wild-type patients (5-year survival, 59% vs 78%; P = .034); however, they appeared to benefit from radiotherapy (P =022) and rituximab-containing regimens (P = .074). NFKBIE aberrations remained an independent factor in multivariate analysis (P = .003) and when restricting the analysis to immunochemotherapy-treated patients (P = .008). Whole-exome sequencing and gene expression profiling verified the importance of NF-\u03baB deregulation in PMBL. In summary, we identify NFKBIE aberrations as a common genetic event across B-cell malignancies and highlight NFKBIE deletions as a novel poor-prognostic marker in PMBL.", "doi": "10.1182/blood-2016-03-704528", "pmid": "27670424", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "S0006-4971(20)33926-4"}], "notes": [], "created": "2017-05-03T12:58:50.678Z", "modified": "2023-06-20T15:59:01.110Z"}