Midline Carcinoma of Children and Young Adults With NUT Rearrangement

• DOI: 10.1200/jco.2004.02.107
• Publication Date: 2004-10-13T03:02:45Z
• Authors: Christopher A. Fr...; Jeffery L. Kutok; William C. Faquin; Jeffrey A. Toretsky; Cristina R. Anton...; Constance A. Griffin; Vania Nose; Sara O. Vargas; Mary Moschovi; Fotini Tzortzatou...; Isao Miyoshi; Antonio R. Perez-...; Jon C. Aster; Jonathan A. Fletcher
• Keywords: BRD4; Gene rearrangement

Purpose A balanced chromosomal translocation, t(15;19), resulting in the BRD4-NUT oncogene, has been identified a lethal carcinoma of young people, disease described primarily case reports. We sought to amass more definitive series tumors with NUT and/or BRD4 gene rearrangements and determine distinct clinicopathologic features. Patients Methods Carcinomas (N = 98) individuals (median age, 32.5 years) were screened for using dual-color fluorescence situ hybridization. Four published carcinomas also evaluated. Immunophenotypic analyses performed. Results Eleven had rearrangements, including eight fusions three novel which designated as variant. All NUT-rearranged (NRCs) arose from midline epithelial structures, first example arising below diaphragm. 17.6 years). Squamous differentiation (seen 82% NRCs) was particularly striking NUT-variant cases. In this description carcinomas, average survival (96 weeks, n 3) longer than (28 8). Strong CD34 expression found six 11 NRCs but zero 45 wild-type carcinomas. Conclusion arise structures are highly lethal, despite intensive therapies. might have less fulminant clinical course those fusions. is characteristic and, therefore, holds promise diagnostic test distinctive entity.