Assuntos
Carcinoma de Células Escamosas , Neoplasias do Seio Maxilar , Humanos , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Neoplasias do Seio Maxilar/patologia , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/cirurgia , Masculino , Tomografia Computadorizada por Raios X , Colesteatoma/cirurgia , Colesteatoma/patologia , Colesteatoma/diagnóstico por imagem , Pessoa de Meia-Idade , FemininoRESUMO
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.
Assuntos
Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Proteínas Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/genética , Neoplasias Ósseas/secundário , Brasil , Evolução Fatal , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/secundário , Masculino , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/genética , Neoplasias do Seio Maxilar/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
OBJECTIVE: High-dose radiation therapy affects bone metabolism, and therefore post-radiotherapy bone formation is an uncommon finding. This case describes an unusual ossification in the maxillary region identified after head and neck radiotherapy. RESULTS: A 45-year-old female patient was submitted to maxillary surgical resection and orbital exenteration due to squamous cell carcinoma. Radiotherapy post-surgery was performed because of compromised surgical margins. After 4 months of the conclusion of radiotherapy, the patient presented a bone exposition at surgical site. Surprisingly, the oral examination and computed tomography revealed a new formation of the right palatine vault and bone formation filling the nasal and orbital cavity. The incisional biopsy discarded residual disease or osteoradionecrosis and showed normal tissue. CONCLUSIONS: To the best of the authors' knowledge, this is the first case of wide bone formation as an early effect of head and neck radiotherapy.
Assuntos
Carcinoma de Células Escamosas/radioterapia , Neoplasias do Seio Maxilar/radioterapia , Neoplasias Orbitárias/radioterapia , Osteogênese/efeitos da radiação , Biópsia , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Terapia Combinada , Feminino , Humanos , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/patologia , Neoplasias do Seio Maxilar/cirurgia , Pessoa de Meia-Idade , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Paranasal sinus osteomas are rare benign tumors. Although various theories such as trauma and infection have been proposed, it is difficult to establish the pathogenesis of osteoma. Osteomas may be detected with routine radiographic examination or the tumors may enlarge and cause symptoms. Osteomas most frequently occur in the frontal and ethmoid sinuses, and are rare in the maxillary sinus. CASE REPORT: In the present study, we report a case of an 18-year-old woman with a maxillary sinus osteoma. Radiographically, the tumor was characterized as a radiopaque, well-delimited lesion in the periapical region of teeth 27 and 28 that had positive sensitivity test. After computed tomographic scanning and complete removal of the tumor, the histopathological diagnosis was osteoma. After 1 year of follow-up, the patient shows no signs of recurrence.
Assuntos
Neoplasias do Seio Maxilar/cirurgia , Osteoma/cirurgia , Adolescente , Biópsia , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/patologia , Osteoma/diagnóstico por imagem , Osteoma/patologia , Radiografia Panorâmica , Tomografia Computadorizada por Raios XRESUMO
Tumoural and cystic lesions are common findings in the daily practice of dental professionals and maxillofacial radiologists. However, simultaneous lesions are rare and represent a diagnostic challenge to overcome. Among tumoural pathologies, odontomas are the most common odontogenic tumour of the jaws. Cystic transformation or development from the tumoural capsule are well recognized in situations such as ameloblastomas originated from a dentigerous cyst. Otherwise, despite literature reports, dentigerous cysts arising from odontomas are very rare and could lead to misdiagnosis. Here, we report a case of a complex odontoma associated with a dentigerous cyst in the maxillary sinus, focussing on the tomographic features and a differential imaging approach to the diagnosis of these lesions.