The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report

• Published in: Journal of medical case reports 2019-09, Vol.13 (1), p.279-279, Article 279
• Main Authors: Oliveira, Leandro J C, Gongora, Aline B L, Latancia, Marcela T, Barbosa, Felipe G, Gregorio, João Vitor A M, Testagrossa, Leonardo A, Amano, Mariane T, Feher, Olavo
• Format: Article
• Language: English
• Subjects: Adult; Antibodies; Biopsy; Bone Neoplasms - diagnostic imaging; Bone Neoplasms - genetics; Bone Neoplasms - secondary; Brazil; Cancer; Cancer metastasis; Carboplatin; Carcinoma; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - pathology; Case Report; Case reports; Case studies; CAT scans; Cetuximab; Chemotherapy; Deoxyribonucleic acid; Diagnosis; Diagnostic imaging; DNA; Fatal Outcome; Formaldehyde; Gene fusion; Genes; Genetic aspects; Head and neck cancer; Health aspects; High-Throughput Nucleotide Sequencing; Hospitals; Humans; Immunohistochemistry; Lung Neoplasms - diagnostic imaging; Lung Neoplasms - genetics; Lung Neoplasms - secondary; Male; Maxillary Sinus Neoplasms - diagnostic imaging; Maxillary Sinus Neoplasms - genetics; Maxillary Sinus Neoplasms - pathology; Metabolism; Metastasis; Molecular pathology; Morphology; Mutation; NMR; Nuclear magnetic resonance; Nuclear Proteins - genetics; NUT midline carcinoma; Oncogene Proteins, Fusion - genetics; Papillomavirus; Papillomavirus infections; Patients; Poorly differentiated squamous cell carcinoma; Positron emission tomography; Positron Emission Tomography Computed Tomography; Proteins; Sinuses; Squamous cell carcinoma; Systemic diseases; Targeted therapy; Tomography; Tumors
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-019-2213-6

NUT midline carcinoma is a rare and aggressive subset of squamous cell carcinoma, which is characterized by the translocation of nuclear protein in testis gene that is mostly fused with bromodomain and extraterminal family proteins. We describe here the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion detected in a next-generation sequencing panel and we present the clinical evolution of this patient. A 42-year-old Caucasian man was diagnosed with poorly differentiated squamous cell carcinoma of the left maxillary sinus, with negative in situ hybridization for Epstein-Barr encoding region and human papillomavirus genotyping. He received induction therapy, chemoradiotherapy with weekly systemic chemotherapy, and, concurrently, weekly intra-arterial chemotherapy. New imaging evaluation, 1 month after the end of the last treatment, revealed a good partial response in the primary lesion. However, positron emission tomography-computed tomography showed multiple suspicious lesions in his bones and lungs, which were histologically confirmed. He died exactly 2 months after metastatic disease was diagnosed. NUT midline carcinoma is usually very aggressive. Currently, there is no standard of care for treatment of NUT midline carcinoma. The definitive diagnosis must be by demonstration of NUTM1 rearrangement. Immunohistochemical staining of greater than 50% of tumor nuclei on formalin-fixed paraffin-embedded tissue using the monoclonal rabbit antibody to NUT (clone C52B1), has a specificity of 100%, and sensitivity of 87% for the diagnosis of NUT midline carcinoma. Our case is the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion.