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1.
Diagn Cytopathol ; 52(9): E176-E186, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38655736

RESUMO

NUT carcinoma (NC) is a highly aggressive, poorly differentiated carcinoma that harbors a t(15:19) translocation, leading to the fusion of the NUTM1 gene. While the upper aerodigestive tract along the midline (head, neck, thorax, and mediastinum) is commonly reported as the primary site of NC, subsequent cases have emerged in diverse locations. Achieving a definitive diagnosis based solely on morphology is challenging; however, it can be achieved using immunohistochemistry (IHC) specific to the NUT antibody or by demonstrating the characteristic BRD4::NUTM1 fusion. Accurate and timely diagnosis can potentially inform patient management and guide treatment. While histologic documentation of NC is commonly found, there is a limited description of its cytologic features. A 39-year-old male with a history of sinonasal squamous cell carcinoma (SCC) presented with a right parotid mass aspirated via fine needle aspiration cytology (FNA). Histologic examination of the previous sinonasal pathology reviewed at our institution revealed sheets of primitive-appearing, monotonous, undifferentiated cells with distinct, prominent nucleoli. Additionally, there were foci of abrupt keratinization, accompanied by a notable neutrophilic infiltrate. The initial diagnosis of SCC was reclassified to NC and confirmed through NUT IHC and molecular testing. Although the parotid FNA initially suggested the possibility of a variety of small round blue cell tumors, it exhibited morphological similarities to the sinonasal tumor, leading to the diagnosis of metastatic NC. Cytomorphologic features of NC are limited and can overlap with various small round blue cell tumors. Correct classification is especially pivotal in the era of targeted therapy, considering the ongoing development and evaluation of BET inhibitors targeting BRD4.


Assuntos
Proteínas Nucleares , Neoplasias Parotídeas , Humanos , Masculino , Adulto , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/diagnóstico , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Proteínas de Neoplasias/metabolismo , Proteínas de Neoplasias/genética , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/diagnóstico , Biópsia por Agulha Fina , Carcinoma/patologia , Carcinoma/diagnóstico , Carcinoma/secundário , Glândula Parótida/patologia
2.
Eur J Rheumatol ; 6(3): 126-129, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31364980

RESUMO

OBJECTIVE: The etiology of rheumatic diseases is unclear, but it is thought that environmental factors added to immunogenetic mechanisms in chronic inflammatory diseases play a role. Many inflammatory disorders, autoimmune diseases, and painful conditions have been shown to be associated with the psychological trauma of childhood. The aim of the present study was to investigate childhood psychological trauma that is considered to be one of the environmental factors that initiate inflammation on patients with rheumatic diseases. METHODS: In our study, a total of 440 patients (220 patients who have rheumatic diseases as the case group and 220 patients who have no rheumatic disease as the control group) were examined. The Childhood Trauma Questionnaire-28 (CTQ-28) was administered and was completed by the patients. This was a cross-sectional study design. RESULTS: No statistically significant differences were found between the case and control groups with respect to age, gender, marital status, and educational level. The CTQ-28 scale was found to be significantly higher in patients with rheumatic diseases (ankylosing spondylitis, rheumatoid arthritis, and connective tissue disease) in our study. CONCLUSION: We think that childhood psychiatric traumas are effective in the etiopathogenesis of rheumatic diseases. To make this relationship more understandable, multidisciplinary research and long-term follow-up studies are needed to examine neuroendocrine, genetic, and epidemiological factors.

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