title: NUT midline carcinoma mimicking tonsillitis in an eight-year-old girl.
abstract: We review a unique case of NUT midline carcinoma that presented in a young girl with an initial diagnosis of tonsillar abscess. We stress the importance of assaying poorly differentiated carcinomas in young patients for the t(15;19) translocation. Our patient presented with tonsillar enlargement and cervical lymphadenopathy mimicking acute tonsillitis. The clinical suspicion for malignancy arose after an aspirate from the tonsil did not yield any pus, and biopsy of a cervical lymph node demonstrated undifferentiated carcinoma. Further analysis by fluorescence in situ hybridization was positive for rearrangements in both BRD4 and NUT genes consistent with NUT carcinoma. In addition, fluorodeoxyglucose-positron emission tomography (FDG-PET) revealed a very high standard uptake value in both the primary tumor and metastatic foci, suggesting that FDG-PET could be a useful tool in the staging and follow-up of NUT midline carcinoma.
authors.affiliation: Department of Otolaryngology, Children's Hospital of Michigan, Detroit, MI 48201, USA.
authors.forename: Amy L
authors.initials: AL
authors.lastname: Rutt
authors.forename: Janet
authors.initials: J
authors.lastname: Poulik
authors.forename: Abdul Hafeez
authors.initials: AH
authors.lastname: Siddiqui
authors.forename: Andre
authors.initials: A
authors.lastname: Konski
authors.forename: Majid
authors.initials: M
authors.lastname: Kalaf
authors.forename: David N
authors.initials: DN
authors.lastname: Madgy
authors.forename: Zhihong J
authors.initials: ZJ
authors.lastname: Wang
mesh_terms: D002277:Carcinoma / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D014067:Tonsillar Neoplasms / Q000175:diagnosis*; D014069:Tonsillitis / Q000175:diagnosis*
chemical_list: C471990:BRD4-NUT fusion oncogene protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion