title: A rare Japanese case with a NUT midline carcinoma in the nasal cavity: a case report with immunohistochemical and genetic analyses.
abstract: BACKGROUND
  NUT (nuclear protein in testis) midline carcinoma (NMC) is a recently described aggressive malignancy that is genetically defined by rearrangements of the NUT locus at 15q14. In approximately two-thirds of cases, the characteristic t(15;19) results in the fusion oncogene BRD4-NUT. Only 10 sinonasal NMCs have been documented, none of which were Japanese cases.
  
  
  METHODS
  An 18-year-old woman was admitted because of a rapidly progressing tumor in the nasal cavity. A biopsy revealed an undifferentiated neoplasm without squamous differentiation. The tumor cells had round to oval nuclei with vesicular chromatin, prominent nucleoli, and scant cytoplasm. Immunohistochemical staining demonstrated a strong positivity for vimentin and NUT, with focal CD138 and only spotty EMA and cytokeratin AE1/AE3 staining. Cytogenetic and fluorescence in situ hybridization analyses revealed a t(15;19) and BRD4-NUT gene rearrangement. Direct sequencing identified the in-frame fusion of exon11 of BRD4 with exon2 of NUT. The patient was transferred to another hospital for chemoradiotherapy.
  
  
  CONCLUSIONS
  We herein describe the first Japanese case with an NMC of the sinonasal cavity, providing detailed and unambiguous cyto- and molecular genetic information on BRD4-NUT-rearrangement. The accumulation of cases with well-documented genetic data should provide clues to the treatment of this tumor entity.
authors.affiliation: Division of Pathology, Iwata City Hospital, Japan. Electronic address: shiosuzuki-path@umin.net.
authors.forename: Shioto
authors.initials: S
authors.lastname: Suzuki
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine, Japan.
authors.forename: Nobuya
authors.initials: N
authors.lastname: Kurabe
authors.affiliation: Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Minato
authors.affiliation: Division of Otolaryngology, Iwata City Hospital, Japan.
authors.forename: Aki
authors.initials: A
authors.lastname: Ohkubo
authors.affiliation: Division of Pathology, Iwata City Hospital, Japan.
authors.forename: Ippei
authors.initials: I
authors.lastname: Ohnishi
authors.affiliation: Division of Pathology, Iwata City Hospital, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Tanioka
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sugimura
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D002277:Carcinoma / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D059248:Chemoradiotherapy; D005260:Female; D050939:Gene Fusion; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D009296:Nasal Cavity / Q000737:chemistry / Q000473:pathology; D009669:Nose Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: C471990:BRD4-NUT fusion oncogene protein, human; D014408:Biomarkers, Tumor; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion
keywords: Japanese; NUT midline carcinoma; Nasal cavity; t(15 ;19)