Subject(s)
Prostatic Neoplasms, Castration-Resistant , Radium , Androgen Antagonists/therapeutic use , Cyclin-Dependent Kinases , DNA/therapeutic use , DNA Damage , Humans , Immunotherapy , Male , Prostatic Neoplasms, Castration-Resistant/drug therapy , Prostatic Neoplasms, Castration-Resistant/pathology , Radium/therapeutic useABSTRACT
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.
Subject(s)
Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/pathology , Nuclear Proteins/genetics , Oncogene Proteins, Fusion/genetics , Adult , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/genetics , Bone Neoplasms/secondary , Brazil , Fatal Outcome , High-Throughput Nucleotide Sequencing , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/genetics , Lung Neoplasms/secondary , Male , Maxillary Sinus Neoplasms/diagnostic imaging , Maxillary Sinus Neoplasms/genetics , Maxillary Sinus Neoplasms/pathology , Positron Emission Tomography Computed TomographyABSTRACT
Currently, there is no established standard of care for patients with metastatic CSCC. Based on the mechanisms of CSCC carcinogenesis has been postulated that these tumors may be amenable to PD-1/PD-L1 blockade.This case illustrates a patient with CSCC with nodal involvement and pulmonary metastases, refractory to two lines of platinum-based regimens and salvage surgery, for whom treatment with nivolumab was recommended. His clinical course was marked by an atypical pattern of response, with initial reduction of soft tissue/visceral lesions, yet development of new bone findings, followed by overall improvement in subsequent scans and sustained disease control upon treatment continuation.The case of patient with metastatic CSCC, refractory, received immunotherapy and evolved with atypical pattern of response.
