title: NUT midline carcinoma: a case report with a novel translocation and review of the literature.
abstract: NUT midline carcinoma (NMC) is a rare, genetically defined, highly lethal undifferentiated carcinoma occurring in the midline location of the neck, head or mediastinum. We present the case of a 23 year-old otherwise healthy Chinese male immigrant who presented with complaints of sore throat and right sided neck mass. The initial treatment was for likely EBV infection with streptococcal superinfection. Although continued investigation was pursued shortly after initial presentation, the mass had enlarged and become necrotic with significant nodal involvement. The mass was diagnosed as an NMC tumor with a novel three-way translocation t(9;15;19; q34;q13;p13.1). Despite aggressive treatment, the patient's condition progressed rapidly and he died within 3 months of initial diagnosis. Standard therapeutic interventions have been ineffective in the treatment of NMC. Earlier diagnosis could allow characterization of the natural progression of this entity, and allow more time for intervention or development of novel therapies, potentially related to molecular targets. This continues to require a high index of suspicion and early imaging with cytogenetic and immunohistochemical confirmation.
authors.affiliation: Tufts University School of Medicine, 145 Harrison Ave, Boston, MA, 02111, USA, andrew.mills.tufts@gmail.com.
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Mills
authors.forename: Michael
authors.initials: M
authors.lastname: Lanfranchi
authors.forename: Richard O
authors.initials: RO
authors.lastname: Wein
authors.forename: Ian
authors.initials: I
authors.lastname: Mukand-Cerro
authors.forename: Monika
authors.initials: M
authors.lastname: Pilichowska
authors.forename: Janet
authors.initials: J
authors.lastname: Cowan
authors.forename: Harprit
authors.initials: H
authors.lastname: Bedi
mesh_terms: D002277:Carcinoma / Q000235:genetics* / Q000473:pathology*; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion
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