title: Nuclear protein in testis midline carcinoma with unusual elevation of α-fetoprotein and synaptophysin positivity: a case report and review of the literature.
abstract: Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare cancer that displays a characteristic chromosomal rearrangement of BRD4-NUT t(15;19)(q14;q13.1). Despite occasional dramatic responses to radiation and chemotherapy, NMC usually behaves aggressively and becomes rapidly progressive. Immunohistochemical staining is usually limited to p63, cytokeratins, and monoclonal NUT antibody. Here, we report a NMC case in a 36-year-old man with elevated serum α-fetoprotein (AFP), synaptophysin positivity, and a 9.0 cm mass involving the right lung and mediastinum. Tumor cells demonstrated BRD4-NUT fusion on fluorescence in situ hybridization. To our knowledge, only one other case with elevated serum AFP and one case with synaptophysin positivity have been described. This diagnosis will undoubtedly grow more common as informed physicians become more aware of the disease and begin testing for NMC. Further study is needed to establish the prevalence of NMC and to elucidate the significance of elevated AFP and synaptophysin positivity in this rare tumor.
authors.affiliation: a 1 Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson Street, room 2516, Loma Linda, CA 92354, USA.
authors.forename: Anwar
authors.initials: A
authors.lastname: Raza
authors.affiliation: b 2 Department of Hematology and Oncology, Loma Linda University Cancer Center, 11175 Campus Street, Loma Linda, CA 92354, USA.
authors.forename: Huynh
authors.initials: H
authors.lastname: Cao
authors.affiliation: a 1 Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson Street, room 2516, Loma Linda, CA 92354, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Conrad
authors.affiliation: a 1 Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson Street, room 2516, Loma Linda, CA 92354, USA.
authors.forename: Camilla
authors.initials: C
authors.lastname: Cobb
authors.affiliation: a 1 Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, 11234 Anderson Street, room 2516, Loma Linda, CA 92354, USA.
authors.forename: Shobha
authors.initials: S
authors.lastname: Castelino-Prabhu
authors.affiliation: c 3 Loma Linda University Cancer Center Biospecimen Laboratory, 11175 Campus Street, Suite 11017, Loma Linda, CA 92354, USA.
authors.forename: Saied
authors.initials: S
authors.lastname: Mirshahidi
authors.affiliation: b 2 Department of Hematology and Oncology, Loma Linda University Cancer Center, 11175 Campus Street, Loma Linda, CA 92354, USA.
authors.forename: Parveen
authors.initials: P
authors.lastname: Shiraz
authors.affiliation: b 2 Department of Hematology and Oncology, Loma Linda University Cancer Center, 11175 Campus Street, Loma Linda, CA 92354, USA.
authors.forename: Hamid R
authors.initials: HR
authors.lastname: Mirshahidi
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000235:genetics / Q000473:pathology*; D015321:Gene Rearrangement; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology; D008297:Male; D008479:Mediastinal Neoplasms / Q000235:genetics / Q000473:pathology; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016708:Synaptophysin / Q000378:metabolism; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: C471990:BRD4-NUT fusion oncogene protein, human; C000630260:NUTM1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D015514:Oncogene Proteins, Fusion; D016708:Synaptophysin; D000509:alpha-Fetoproteins
keywords: BRD4-NUT; NUT midline carcinoma; synaptophysin; α-fetoprotein