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1.
Eur J Case Rep Intern Med ; 11(2): 004265, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38352806

RESUMO

A nuclear protein in testis (NUT) midline carcinoma arises from squamous cells and is often located in the head, neck, and lungs. This report focuses on the negative p63 mutation and older age at the diagnosis of a NUT carcinoma, which has significant prognostic implications. A 62-year-old patient presented initially with a three-year history of recurring frontal headaches, intermittent nasal bleeding, and a sensation of a nasal cavity mass. An incisional biopsy revealed a poorly differentiated NUT carcinoma in the left maxillary sinus. A functional endoscopic sinus surgery was performed, but the cancer recurred. As a result, a total maxillectomy was performed, and the patient was declared cancer-free with no evidence of residual disease. This is a rare instance of a p63-negative midline NUT cell carcinoma (NCC) in an elderly patient, which could potentially contribute to a more favourable prognosis and longer survival compared to other reported cases. LEARNING POINTS: Molecular analysis of a NUT carcinoma and age at diagnosis may serve as a potential means for predicting patient prognosis in cases of midline NCC.Each patient should receive careful monitoring and a personalised treatment strategy based on their molecular studies. Surgical resection, along with a combination of radiotherapy and chemotherapy, has the potential to improve overall survival rates.In line with the commonly observed relationship between increased p63 mutation and poorer survival rates, a negative p63 expression in squamous cell carcinomas may indicate a more favorable prognosis. This hypothesis highlights the importance of further research to validate these findings.

2.
Cureus ; 15(8): e44184, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37767251

RESUMO

Behcet syndrome is a systemic vasculitic syndrome. Vascular involvement in Behcet syndrome affects both arterial and venous vascular systems, contributing to significant morbidity and mortality. However, diagnosing vascular lesions can be challenging due to their resemblance to common vascular diseases, leading to potential misdiagnoses. This case report emphasizes the importance of recognizing atypical manifestations of this disease to ensure a prompt and accurate diagnosis. This case report describes a unique presentation of Behcet syndrome in a 23-year-old male patient who presented with per rectal bleeding, abdominal distension, right quadrant abdominal pain, pleuritic chest pain, and fever. The patient also reported a history of recurrent oral and genital ulcers, skin lesions, and a previous episode of dural venous sinus thrombosis. Extensive investigations revealed the involvement of the inferior vena cava and right hepatic vein, representing an atypical vascular manifestation of Behcet syndrome. Prompt diagnosis by a multidisciplinary team led to appropriate treatment with cyclophosphamide and steroids, resulting in the resolution of vascular thrombosis. In this particular case, the patient presented with involvement of the inferior vena cava and right hepatic vein, a rare and unusual manifestation of the disease. This case highlights the diverse nature of vascular complications in Behcet syndrome and underscores the importance of considering this diagnosis in patients with unexplained vascular abnormalities. Overall, this case report highlights the importance of considering Behcet syndrome in the differential diagnosis of patients with unexplained vascular manifestations. It also emphasizes the need for a comprehensive clinical evaluation and collaborative approach to ensure timely and effective management.

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