NUT carcinoma of the thorax: Case report and review of the literature.
NUT (nuclear protein in testis) carcinomas are exceedingly rare neoplasms with specific molecular alterations and often follow a devastating course. Thus, a precise early diagnosis is of utmost importance. Known from the sinonasal region for years, the new 2015 WHO classification now also recognizes the existence of this entity in the thorax, specifically the lungs and the mediastinum. However, yet available data on this entity are sparse. Here, we report on a 31 years old female patient with an aggressively growing tumor localized in the median line that was initially sampled by endobronchial ultrasound-guided transbronchial biopsies. Pathological assessment of the biopsy specimens revealed a NUT carcinoma with typical morphological characteristics and an uncommon NUT translocation variant with a NSD3-NUT fusion. Diagnosis was further confirmed in the subsequent resection specimen. We describe specific clinical, histomorphological, and molecular characteristics of this tumor and provide a comprehensive review of the current literature on these rare neoplasms.
Institute of Pathology, University Hospital Heidelberg, Germany.
Alexander
A
Harms
Institute of Pathology, University Hospital Heidelberg, Germany.
Esther
E
Herpel
Institute of Pathology, University Hospital Heidelberg, Germany.
Nicole
N
Pfarr
Institute of Pathology, University Hospital Heidelberg, Germany.
Roland
R
Penzel
Department of Diagnostic and Interventional Radiology with Nuclear Medicine, Thoraxklinik at Heidelberg University, Germany; Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Germany.
Claus-Peter
CP
Heussel
Department of Pneumology and Respiratory Critical Care Medicine, Thoraxklinik at Heidelberg University, Germany.
Felix J F
FJ
Herth
Department of Thoracic Surgery, Thoraxklinik at Heidelberg University, Germany.
Hendrik
H
Dienemann
Institute of Pathology, University Hospital Heidelberg, Germany; National Center for Tumor Diseases (NCT), Heidelberg, Germany.
Wilko
W
Weichert
Institute of Pathology, University Hospital Heidelberg, Germany. Electronic address: arne.warth@med.uni-heidelberg.de.
Arne
A
Warth
D000328:Adult; D014408:Biomarkers, Tumor; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D050939:Gene Fusion; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D050596:Oncogene Fusion; D015513:Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D013909:Thorax / Q000473:pathology*
D014408:Biomarkers, Tumor; C000630260:NUTM1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015513:Oncogene Proteins
Carcinoma; Lung cancer; Midline; NUT; Review