title: NUT gene rearrangement in a poorly-differentiated carcinoma of the submandibular gland.
abstract: NUT midline carcinomas (NMC) are a rare, recently described class of poorly-differentiated tumors that exhibit rapid onset and highly aggressive clinicopathologic behavior. These tumors are defined by rearrangement of the nuclear protein in testis (NUT) gene on chromosome 15q14, most commonly in a balanced translocation with the BRD4 gene on chromosome 19p13.1, resulting in the characteristic BRD4-NUT fusion gene and protein which blocks epithelial differentiation through chromatin binding. NMC frequently involve midline structures of adolescents and young adults and affect the head and neck region in 50% of cases. To our knowledge, only one case has been previously reported involving a salivary gland. Here, we present a case of a NMC of the salivary gland in an adolescent male presenting with an intermittently painful left submandibular mass of 3 months duration.
authors.affiliation: Department of Pathology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
authors.forename: James
authors.initials: J
authors.lastname: Ziai
authors.forename: Chris A
authors.initials: CA
authors.lastname: French
authors.forename: Eduardo
authors.initials: E
authors.lastname: Zambrano
mesh_terms: D000293:Adolescent; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004273:DNA, Neoplasm / Q000032:analysis; D018572:Disease-Free Survival; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D018714:Radiotherapy, Adjuvant; D013363:Submandibular Gland / Q000473:pathology / Q000601:surgery; D013365:Submandibular Gland Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy
chemical_list: D004273:DNA, Neoplasm; C000630260:NUTM1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015513:Oncogene Proteins